Paul Lockhart

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M Gomez, Susan Perlman, Soma Das, Brent L Fogel

Journal article  |  2020  |  Neurology Genetics

ObjectiveWe evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor..

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

Haloom Rafehi, David J Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article  |  2020  |  Movement Disorders

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature

Chloe A Stutterd, David Francis, George McGillivray, Paul J Lockhart, Richard J Leventer

Journal article  |  2020  |  European Journal of Medical Genetics

We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome..

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A McLean, Paul Q Thomas, David Finkelstein, Paul Lockhart

Journal article  |  2020  |  Molecular Brain

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

Yujing Gao, Gabrielle Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona McLean, Paul Thomas, David Finkelstein, Paul Lockhart

Journal article  |  2020

Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-on..

ASK1 inhibition: a therapeutic strategy with multi-system benefits

Jacqueline M Ogier, Bryony A Nayagam, Paul J Lockhart

Journal article  |  2020  |  Journal of Molecular Medicine

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

Megan Spencer-Smith, Jacquelyn L Knight, Emmanuelle Lacaze, Christel Depienne, Paul J Lockhart, Linda J Richards, Delphine Heron, Richard J Leventer, Gail A Robinson, Amelia Ceslis, Emily Gibson, Kim Giraudat, Alissandra McIlroy, Lynn K Paul, Vanessa Siffredi, Melanie Bahlo, Megan Barker, Eleonore Blondiaux, Timothy J Edwards, Catherine Garel, et al.

Journal article  |  2020  |  Developmental Medicine & Child Neurology

Intravenously delivered aminoglycoside antibiotics, tobramycin and amikacin, are not ototoxic in mice

Jacqueline M Ogier, Paul J Lockhart, Rachel A Burt

Journal article  |  2020  |  Hearing Research

Many drugs on the World Health Organization's list of critical medicines are ototoxic, destroying sensory hair cells within the ea..

Clinical and Neuropathological Features Associated With Loss of RAB39B

Yujing Gao, Veronica Martinez-Cerdeno, Kirk J Hogan, Catriona A McLean, Paul J Lockhart

Journal article  |  2020  |  Movement Disorders

BACKGROUND: Pathogenic variants in the small GTPase Ras Analogue in Brain 39b (RAB39B) have been linked to the development of earl..

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, et al.

Journal article  |  2019  |  Journal of Human Genetics

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability,..

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

Haloom Rafehi, David Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan White, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Journal article  |  2019

Abstract Background Spinocerebellar ataxias (SCA) are often caused by expansions of short tandem repeats (STRs). Recent methodolog..

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia

Jamie W Sleigh, Kate Leslie, Andrew J Davidson, David J Amor, Peter Diakumis, Vesna Lukic, Paul J Lockhart, Melanie Bahlo

Journal article  |  2019  |  Anesthesiology

BACKGROUND: Intraoperative awareness with recall while under apparently adequate general anesthesia is a rare, unexplained, and of..

Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort

Dona Aboud Syriani, Darice Wong, Claudio De Gusmao, Sameer Andani, Yuanming Mao, Giacomo Glotzer, Paul Lockhart, Sharon Hassin-Baer, Vikram Khurana, Soma Das, Christopher Gomez, Susan Perlman, Brent Fogel

Journal article  |  2019

ABSTRACT Objective Repeat expansions in RFC1 and DAB1 have recently been identified as causing cerebellar ataxia, neuropathy, and ..

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernandez, Natasha J Brown, Kate Pope, Cherie C Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J Lockhart

Journal article  |  2019  |  Stem Cell Research

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara LM Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, Maria Garcia Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

Trio whole-genome sequencing for patients with unclassified leukodystrophies

CA Stutterd, M Delatycki, P Lockhart, R Taft, A Vanderver, C Simons, RJ Leventer

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Wei Shern Lee, Sarah EM Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  Annals of Clinical and Translational Neurology

Focal cortical dysplasia (FCD) causes drug-resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. Ho..

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Journal article  |  2019  |  Parkinsonism & Related Disorders

BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date..

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta Trevis, Natasha Brown, Cherie Green, Paul Lockhart, Peter Hickey, Miriam Fanjul-Fernandez, Catherine Bromhead, Tarishi Desai, Tanya Vick, Greta Gillies, Hayley Mountford, Elizabeth Fitzpatrick, Lavinia Gordon, Peter Hewson, Vicki Anderson, Martin Delatycki, Ingrid Eileen Scheffer, Sarah Wilson

Journal article  |  2019

Families comprising many individuals with Autism Spectrum Disorder (ASD) may carry a dominant predisposing mutation. Our aim was t..

Pathogenic Variants in GPC4 Cause Keipert Syndrome

David J Amor, Sarah EM Stephenson, Mirna Mustapha, Martin A Mensah, Charlotte W Ockeloen, Wei Shern Lee, Rick M Tankard, Dean G Phelan, Marwan Shinawi, Arjan PM de Brouwer, Rolph Pfundt, Cari Dowling, Tomi L Toler, V Reid Sutton, Emanuele Agolini, Martina Rinelli, Rossella Capolino, Diego Martinelli, Giuseppe Zampino, Miroslav Dumic, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

Cerebral hypomyelination associated with biallelic variants of FIG4

Guy M Lenk, Ian R Berry, Chloe A Stutterd, Moira Blyth, Lydia Green, Gayatri Vadlamani, Daniel Warren, Ian Craven, Miriam Fanjul-Fernandez, Victoria Rodriguez-Casero, Paul J Lockhart, Adeline Vanderver, Cas Simons, Susan Gibb, Simon Sadedin, Susan M White, John Christodoulou, Olga Skibina, Jonathan Ruddle, Tiong Y Tan, et al.

Journal article  |  2019  |  Human Mutation

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults

Katerina Vlahos, Koula Sourris, Robyn Mayberry, Penelope McDonald, Freya F Bruveris, Jacqueline V Schiesser, Kiymet Bozaoglu, Paul J Lockhart, Edouard G Stanley, Andrew G Elefanty

Journal article  |  2019  |  Stem Cell Research

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63

Ashley PL Marsh, Gaia Novarino, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  European Journal of Human Genetics

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

CA Stutterd, NJ Lake, H Peters, PJ Lockhart, RJ Taft, MS van der Knaap, A Vanderver, DR Thorburn, C Simons, RJ Leventer

Journal article  |  2019  |  JIMD reports

AIM: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with app..

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

Rick M Tankard, Mark E Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article  |  2018  |  The American Journal of Human Genetics

MCM3AP in recessive axonal neuropathy and mild intellectual disability

E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, W Maie, SL Sawyer, KM Bell, A Oshlack, PL Lockhart, M Shcherbii, A Estrada-Cuzcano, D Atkinson, T Hartley, M Tetreault, I Cuppen, WL van der Pol, A Candayan, E Battaloglu, et al.

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Cell and animal models lacking RAB39B show biochemical and behavioural phenotypes that model aspects of Parkinson's disease

Y Gao, G Wilson, S Stephenson, K Bozaoglu, M Dottori, P Thomas, P Lockhart

Conference Proceedings  |  2018  |  MOVEMENT DISORDERS

Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum

Timothy J Edwards, Ashley PL Marsh, Paul J Lockhart, Linda J Richards, Richard J Leventer

Journal article  |  2018  |  Neurology

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo JHM de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander PA Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice AM van Steensel

Journal article  |  2018  |  Human Molecular Genetics

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

Philip H Iffland, Marianna Baybis, Allan E Barnes, Richard J Leventer, Paul J Lockhart, Peter B Crino

Journal article  |  2018  |  Neurobiology of Disease

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2018  |  Neurology Genetics

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

Sarah EM Stephenson, Timothy D Aumann, Juliet M Taylor, Jessica R Riseley, Ruili Li, Jeffrey R Mann, Doris Tomas, Paul J Lockhart

Journal article  |  2018  |  Scientific Reports

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Erin L Heinzen, Adam C O'Neill, Xiaolin Zhu, Andrew S Allen, Melanie Bahlo, Jamel Chelly, Ming Hui Chen, William B Dobyns, Saskia Freytag, Renzo Guerrini, Richard J Leventer, Annapurna Poduri, Stephen P Robertson, Christopher A Walsh, Mengqi Zhang

Journal article  |  2018  |  PLOS Genetics

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease

Yujing Gao, Gabrielle R Wilson, Kiymet Bozaoglu, Andrew G Elefanty, Edouard G Stanley, Mirella Dottori, Paul J Lockhart

Journal article  |  2018  |  Stem Cell Research

The Emerging Role of Rab GTPases in the Pathogenesis of Parkinson's Disease

Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Kiymet Bozaoglu, Matthew J Farrer, Paul J Lockhart

Journal article  |  2018  |  Movement Disorders

ADGRV1 is implicated in myoclonic epilepsy

Kenneth A Myers, Steven Nasioulas, Amber Boys, Jacinta M McMahon, Howard Slater, Paul Lockhart, Desiree du Sart, Ingrid E Scheffer

Journal article  |  2018  |  Epilepsia

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

Ronan V da Silva, Helge C Johannssen, Matthias T Wyss, R Brian Roome, Farin B Bourojeni, Nicolas Stifani, Ashley PL Marsh, Monique M Ryan, Paul J Lockhart, Richard J Leventer, Linda J Richards, Bernard Rosenblatt, Myriam Srour, Bruno Weber, Hanns Ulrich Zeilhofer, Artur Kania

Journal article  |  2018  |  Cell Reports

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Ashley PL Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle, Saumya S Jamuar, Aurelie Meneret, Marie-Laure Moutard, Caroline Nava, Agnes Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A Walsh, Timothy W Yu, Delphine Heron, Elliott H Sherr, et al.

Journal article  |  2018  |  Human Mutation

DEVELOPING CELL AND GENE THERAPY TO TREAT FRIEDREICH ATAXIA

Sze Hwee Ong, Dong C Zhang, Chou H Sim, M Burton, Dean Phelan, Sarah EM Stephenson, Gabrielle R Wilson, Donald F Newgreen, Anthony J Hannan, Paul J Lockhart, Martin B Delatycki, Marguerite V Evans-Galea

Conference Proceedings  |  2018  |  JOURNAL OF GENE MEDICINE

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart

Journal article  |  2018  |  F1000Research

Short tandem repeats (STRs), also known as microsatellites, are commonly defined as consisting of tandemly repeated nucleotide mot..

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Chloe Stutterd, Peter Diakumis, Melanie Bahlo, Miriam Fanjul Fernandez, Richard J Leventer, Martin Delatycki, David Amor, Chung W Chow, Sarah Stephenson, Miriam H Meisler, Catriona Mclean, Paul J Lockhart

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, et al.

Journal article  |  2017  |  Brain

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

Rick Tankard, Mark Bennett, Peter Degorski, Martin Delatycki, Paul Lockhart, Melanie Bahlo

Journal article  |  2017

Abstract Repeat expansions cause over 30, predominantly neurogenetic, inherited disorders. These can present with overlapping clin..

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, et al.

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly AF Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, et al.

Journal article  |  2017  |  Nature Genetics

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley PL Marsh, Delphine Heron, Timothy J Edwards, Angelique Quartier, Charles Galea, Caroline Nava, Agnes Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, et al.

Journal article  |  2017  |  Nature Genetics

A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

Ashley PL Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart

Journal article  |  2017  |  American Journal of Medical Genetics Part A

Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

David J Amor, Ashley P Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart

Journal article  |  2016  |  Neurology Genetics

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

Bruno Vaz, Marta Popovic, Joseph A Newman, John Fielden, Hazel Aitkenhead, Swagata Halder, Abhay Narayan Singh, Iolanda Vendrell, Roman Fischer, Ignacio Torrecilla, Neele Drobnitzky, Raimundo Freire, David J Amor, Paul J Lockhart, Benedikt M Kessler, Gillies W McKenna, Opher Gileadi, Kristijan Ramadan

Journal article  |  2016  |  Molecular Cell

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schoeneborn, Kate Pope, Katherine B Howell, Catriona A McLean, Andrew J Kornberg, Joerg Joseph, Paul J Lockhart, Klaus Zerres, Monique M Ryan, Stanley F Nelson, Carla M Koehler, Joanna C Jen

Journal article  |  2016  |  Brain

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy(aEuro)

Dean G Phelan, David J Anderson, Sara E Howden, Raymond CB Wong, Peter F Hickey, Kate Pope, Gabrielle R Wilson, Alice Pebay, Andrew M Davis, Steven Petrou, Andrew G Elefanty, Edouard G Stanley, Paul A James, Ivan Macciocca, Melanie Bahlo, Michael M Cheung, David J Amor, David A Elliott, Paul J Lockhart

Journal article  |  2016  |  European Heart Journal

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Barbara Rivera, Tenzin Gayden, Jian Carrot-Zhang, Javad Nadaf, Talia Boshari, Damien Faury, Michele Zeinieh, Romeo Blanc, David L Burk, Somayyeh Fahiminiya, Eric Bareke, Ulrich Schueller, Camelia M Monoranu, Ronald Straeter, Kornelius Kerl, Thomas Niederstadt, Gerhard Kurlemann, Benjamin Ellezam, Zuzanna Michalak, Maria Thom, et al.

Journal article  |  2016  |  Acta Neuropathologica

Rasmussen encephalitis tissue transfer program

Carol A Kruse, Carlos A Pardo, Adam L Hartman, George Jallo, Eileen PG Vining, Joe Voros, William D Gaillard, Judy Liu, Chima Oluigbo, Stephen Malone, Andrew F Bleasel, Mark Dexter, Alex Micati, Tonicarlo R Velasco, Helio R Machado, Anthony M Martino, Adam Huang, BM Wheatley, Gerald A Grant, Tiziana Granata, et al.

Journal article  |  2016  |  Epilepsia

Compound Heterozygous FXN Mutations and Clinical Outcome in Friedreich Ataxia

Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L Perlman, Martin B Delatycki, Marguerite V Evans-Galea

Journal article  |  2016  |  Annals of Neurology

Familial Cortical Dysplasia Caused by Mutation in the Mammalian Target of Rapamycin Regulator NPRL3

Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernandez, Jessica R Riseley, Greta Gillies, Kate Pope, Hanna van Roozendaal, Julian I Heng, Simone A Mandelstam, George McGillivray, Duncan MacGregor, Lakshminarayanan Kannan, Wirginia Maixner, A Simon Harvey, David J Amor, Martin B Delatycki, Peter B Crino, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2016  |  Annals of Neurology

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Ashley PL Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe CH Sim, Martin B Delarycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Journal article  |  2015  |  Neurology Genetics

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Richard J Leventer, Thomas Scerri, Ashley PL Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A Simon Harvey, Martin B Delatycki, David J Amor, Peter Crino, Melanie Bahlo, Paul J Lockhart

Journal article  |  2015  |  Neurology

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel, Gary Rance, Sarah EM Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, et al.

Journal article  |  2015  |  Journal of neurology

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Thomas Scerri, Jessica R Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A Mandelstam, Leanne Dibbens, Chung W Chow, Wirginia Maixner, Anthony Simon Harvey, Graeme D Jackson, David J Amor, Martin B Delatycki, Peter B Crino, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo, Paul J Lockhart, Richard J Leventer

Journal article  |  2015  |  Annals of Clinical and Translational Neurology

ARID1B-mediated disorders: Mutations and possible mechanisms

Joe CH Sim, Susan M White, Paul J Lockhart

Journal article  |  2015  |  Intractable & Rare Diseases Research

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology

Gabrielle R Wilson, Joe CH Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Jessica R Riseley, Sarah EM Stephenson, Elizabeth Fitzpatrick, Stefan A Haas, Kate Pope, Kirk J Hogan, Ronald G Gregg, Catherine J Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchyard, Yujing Gao, Dean G Phelan, Greta Gillies, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe CH Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon von Ameln, Josef Hoegel, et al.

Journal article  |  2014  |  Nature Genetics

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje WM van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka ELM Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, et al.

Journal article  |  2014  |  Nature Genetics

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy

Katherine R Smith, Richard J Leventer, Mark T Mackay, Kate Pope, Greta Gillies, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article  |  2014  |  International Journal of Stroke

Cell and Gene Therapy for Friedreich Ataxia: Progress to Date

Marguerite V Evans-Galea, Alice Pebay, Mirella Dottori, Louise A Corben, Sze Hwee Ong, Paul J Lockhart, Martin B Delatycki

Journal article  |  2014  |  Human Gene Therapy

HFE p.C282Y Heterozygosity Is Associated With Earlier Disease Onset in Friedreich Ataxia

Martin B Delatycki, Geneieve Tai, Louise Corben, Eppie M Yiu, Marguerite V Evans-Galea, Sarah EM Stephenson, Lyle Gurrin, Katrina J Allen, David Lynch, Paul J Lockhart

Journal article  |  2014  |  Movement Disorders

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead, Elizabeth Fitzpatrick, Maja Di Rocco, Maurice van Steensel, David J Coman, Richard J Leventer, Martin B Delatycki, David J Amor, Melanie Bahlo, Paul J Lockhart

Journal article  |  2014  |  European Journal of Human Genetics

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Joe CH Sim, Susan M White, Elizabeth Fitzpatrick, Gabrielle R Wilson, Greta Gillies, Kate Pope, Hayley S Mountford, Pernille M Torring, Shane Mckee, Anneke T Vulto-van Silfhout, Shalini N Jhangiani, Donna M Muzny, Richard J Leventer, Martin B Delatycki, David J Amor, Paul J Lockhart

Journal article  |  2014  |  Orphanet Journal of Rare Diseases

lBeyond Loss of Frataxin: the Complex Molecular Pathology of Friedreich Ataxia

MArguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, Anthony J Hannan, Martin B Delatycki

Journal article  |  2014  |  DISCOVERY MEDICINE

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J Taft, Adeline Vanderver, Richard J Leventer, Stephen A Damiani, Cas Simons, Sean M Grimmond, David Miller, Johanna Schmidt, Paul J Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, Irenaeus FM de Coo, Monica Juneja, Ishwar C Verma, Prab Prabhakar, Susan Blaser, Julian Raiman, Petra JW Pouwels, et al.

Journal article  |  2013  |  American Journal of Human Genetics

The genetics of cardiomyopathy, new technologies and the path to personalised medicine

D Phelan, GR Wilson, PA James, PJ Lockhart

Journal article  |  2013  |  OA Genetics

Introduction Cardiomyopathy is defined as the weakening of the heart muscle, which reduces the ability of the heart to pump blood..

Parkin Co-Regulated Gene is involved in aggresome formation and autophagy in response to proteasomal impairment

Juliet M Taylor, Kate M Brody, Paul J Lockhart

Journal article  |  2012  |  Experimental Cell Research

The COMT Val158 allele is associated with impaired delayed-match-to- sample performance in ADHD

Natasha Matthews, Alasdair Vance, Tarrant DR Cummins, Joseph Wagner, Amanda Connolly, Jacqueline Yamada, Paul J Lockhart, Ajay Panwar, Robyn H Wallace, Mark A Bellgrove

Journal article  |  2012  |  Behavioral and Brain Functions

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond, Gabrielle R Wilson, Sarah EM Stephenson, Ivan Macciocca, Chriselle Hickerton, Paul J Lockhart, Sylvia A Metcalfe

Journal article  |  2012  |  European Journal of Human Genetics

Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

Marie-Christine Chartier-Harlin, Justus C Dachsel, Carles Vilarino-Gueell, Sarah J Lincoln, Frederic Lepretre, Mary M Hulihan, Jennifer Kachergus, Austen J Milnerwood, Lucia Tapia, Mee-Sook Song, Emilie Le Rhun, Eugenie Mutez, Lydie Larvor, Aurelie Duflot, Christel Vanbesien-Mailliot, Alexandre Kreisler, Owen A Ross, Kenya Nishioka, Alexandra I Soto-Ortolaza, Stephanie A Cobb, et al.

Journal article  |  2011  |  American Journal of Human Genetics

Long Range Regulation of Human FXN Gene Expression

Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero

Journal article  |  2011  |  PLoS One

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, Hayley S Mountford, Emma A Hall, Martin AM Reijns, Margaret Keighren, Melanie Bahlo, Catherine J Bromhead, Peter Budd, Salim Aftimos, Martin B Delatycki, Ravi Savarirayan, Ian J Jackson, David J Amor

Journal article  |  2011  |  American Journal of Human Genetics

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart, Hossein Najmabadi, Richard J Leventer, George McGillivray, David J Amor, Richard J Smith, Melanie Bahlo

Journal article  |  2011  |  Genome Biology

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

Zornitza Stark, Damien L Bruno, Hayley Mountford, Paul J Lockhart, David J Amor

Journal article  |  2010  |  European Journal of Medical Genetics

Molecular analysis of the PArkin co-regulated gene and association with male infertility

Gabrielle R Wilson, Marcus L-J Sim, Kate M Brody, Juliet M Taylor, Robert I McLachlan, Moira K O'Bryan, Martin B Delatycki, Paul J Lockhart

Journal article  |  2010  |  Fertility and Sterility

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quaking(viable) mutant mouse

Gabrielle R Wilson, Hong X Wang, Gary F Egan, Philip J Robinson, Martin B Delatycki, Moira K O'Bryan, Paul J Lockhart

Journal article  |  2010  |  Human Molecular Genetics

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools

MB Delatycki, M Wolthuizen, V Collins, E Varley, J Craven, KJ Allen, MA Aitken, L Bond, PJ Lockhart, GR Wilson, I Macciocca, SA Metcalfe

Journal article  |  2010  |  Clinical Genetics

MUTANT TORSINA INTERACTS WITH TYROSINE HYDROXYLASE IN CULTURED CELLS

CA O'Farrell, KL Martin, M Hutton, MB Delatycki, MR Cookson, PJ Lockhart

Journal article  |  2009  |  Neuroscience

Degeneration in Different Parkinsonian Syndromes Relates to Astrocyte Type and Astrocyte Protein Expression

Yun Ju C Song, Glenda M Halliday, Janice L Holton, Tammaryn Lashley, Sean S O'Sullivan, Heather McCann, Andrew J Lees, Tetsutaro Ozawa, David R Williams, Paul J Lockhart, Tanias R Revesz

Journal article  |  2009  |  Journal of Neuropathology and Experimental Neurology

Expression and localization of the Parkin Co-Regulated Gene in mouse CNS suggests a role in ependymal cilia function

Gabrielle R Wilson, Jacqueline T Tan, Kate M Brody, Juliet M Taylor, Martin B Delatycki, Paul J Lockhart

Journal article  |  2009  |  Neuroscience Letters

Analysis of PArkin Co-Regulated Gene in a Taiwanese-Ethnic Chinese cohort with early-onset Parkinson's disease

Juliet M Taylor, Ruey-Meei Wu, Matthew J Farrer, Martin B Delatycki, Paul J Lockhart

Journal article  |  2009  |  Parkinsonism and Related Disorders

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

Juliet M Taylor, Ruey-Meei Wu, Chin-Hsien Lin, Martin B Delatycki, Paul J Lockhart

Journal article  |  2009  |  Parkinsonism and Related Disorders

Identification and validation of control cell lines for accurate parkin dosage analysis

Juliet M Taylor, Martin B Delatycki, Paul J Lockhart

Journal article  |  2009  |  Journal of Neuroscience Methods

Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism

Ming-Jen Lee, Ignacio F Mata, Chin-Hsien Lin, Kai-Yuan Tzen, Sarah J Lincoln, Rebecca Bounds, Paul J Lockhart, Mary M Hulihan, Matthew J Farrer, Ruey-Meei Wu

Journal article  |  2009  |  Movement Disorders

Regional and cellular localisation of Parkin Co-Regulated Gene in developing and adult mouse brain

Kate M Brody, Juliet M Taylor, Gabrielle R Wilson, Martin B Delatycki, Paul J Lockhart

Journal article  |  2008  |  Brain Research

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain

KM Brody, JM Taylor, GR Wilson, MB Delatycki, PJ Lockhart

Journal article  |  2008  |  Brain Research

Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of parkinsonian diseases

Juliet M Taylor, Yun Ju C Song, Yue Huang, Matthew J Farrer, Martin B Delatycki, Glenda M Halliday, Paul J Lockhart

Journal article  |  2007  |  Neurobiology of Disease

Oligomeric alpha-synuclein inhibits tubulin polymerization

Leo Chen, Jinghua Jin, Jeanne Davis, Yong Zhou, Yan Wang, Jun Liu, Paul J Lockhart, Jing Zhang

Journal article  |  2007  |  Biochemical and Biophysical Research Communications

Genetic analysis in a Taiwanese cohort with autosomal recessive early-onset parkinsonism

M Lee, IF Mata, S Lincoln, R Bounds, PJ Lockhart, C Lin, M Hulihan, MJ Farrer, R Wu

Conference Proceedings  |  2006  |  MOVEMENT DISORDERS

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

MC Fahey, MA Knight, JH Shaw, RJM Gardner, D du Sart, PJ Lockhart, MB Delatycki, PC Gates, E Storey

Journal article  |  2005  |  Journal of Neurology, Neurosurgery and Psychiatry

Quantitative proteomic analysis of mitochondrial proteins: relevance to Lewy body formation and Parkinson's disease

JH Jin, GE Meredith, L Chen, Y Zhou, J Xu, FS Shie, P Lockhart, J Zhang

Journal article  |  2005  |  Molecular Brain Research

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

PJ Lockhart, R Bounds, M Hulihan, J Kachergus, S Lincoln, CH Lin, RM Wu, MJ Farrer

Journal article  |  2004  |  Movement Disorders

Biochemical characterization of torsinB

C O'Farrell, PJ Lockhart, S Lincoln, M De Lucia, AB Singleton, DW Dickson, MR Cookson

Journal article  |  2004  |  Molecular Brain Research

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)

S Furtado, H Payami, PJ Lockhart, M Hanson, JG Nutt, AA Singleton, A Singleton, J Bower, RJ Utti, TD Bird, R de la Fuente-Femandez, Y Tsuboi, ML Klimek, O Suchowersky, J Hardy, DB Calne, ZK Wszolek, M Farrer, K Gwinn-Hardy, AJ Stoessl

Journal article  |  2004  |  Movement Disorders

UCHL1 is a Parkinson's disease susceptibility gene

DM Maraganore, TG Lesnick, A Elbaz, MC Chartier-Harlin, T Gasser, R Kruger, N Hattori, GD Mellick, A Quattrone, J Satoh, T Toda, J Wang, JPA Ioannidis, M de Andrade, WA Rocca

Journal article  |  2004  |  Annals of Neurology

Parkin genetics: one model for Parkinson's disease

IF Mata, PJ Lockhart, MJ Farrer

Journal article  |  2004  |  Human Molecular Genetics

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

PJ Lockhart, S Lincoln, M Hulihan, J Kachergus, K Wilkes, G Bisceglio, DC Mash, MJ Farrer

Journal article  |  2004  |  Journal of Medical Genetics

Identification of the human ubiquitin specific protease 31 (USP31) gene: Structure, sequence and expression analysis

PJ Lockhart, M Hulihan, S Lincoln, J Hussey, L Skipper, G Bisceglio, K Wilkes, MJ Farrer

Journal article  |  2004  |  DNA Sequence

The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval

A Zimprich, B Muller-Myhsok, M Farrer, P Leitner, M Sharma, M Hulihan, P Lockhart, A Strongosky, J Kachergus, DB Calne, J Stoessl, RJ Uitti, RF Pfeiffer, C Trenkwalder, N Homann, E Ott, K Wenzel, F Asmus, J Hardy, Z Wszolek, et al.

Journal article  |  2004  |  The American Journal of Human Genetics

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG)

PJ Lockhart, CA O'Farrell, MJ Farrer

Journal article  |  2004  |  Movement Disorders

Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease

PJ Lockhart, J Kachergus, S Lincoln, M Hulihan, G Bisceglio, N Thomas, D Dickson, MJ Farrer

Journal article  |  2004  |  Journal of Molecular Neuroscience

RING finger 1 mutations in Parkin produce altered localization of the protein

MR Cookson, PJ Lockhart, C O'Farrell, M Schlossmacher, MJ Farrer

Journal article  |  2003  |  Human Molecular Genetics

SCA2 may present as levodopa-responsive parkinsonism

H Payami, J Nutt, S Gancher, T Bird, MG McNeal, WK Seltzer, J Hussey, P Lockhart, K Gwinn-Hardy, AA Singleton, AB Singleton, J Hardy, M Farrer

Journal article  |  2003  |  Movement Disorders

Identification of a novel gene linked to parkin via a bi-directional promoter

AB West, PJ Lockhart, C O'Farell, MJ Farrer

Journal article  |  2003  |  Journal of Molecular Biology

Parkin protects against the toxicity associated with mutant alpha-synuclein: Proteasome dysfunction selectively affects catecholaminergic neurons

L Petrucelli, C O'Farrell, PJ Lockhart, M Baptista, K Kehoe, L Vink, P Choi, B Wolozin, M Farrer, J Hardy, MR Cookson

Journal article  |  2002  |  Neuron

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

AB West, D Maraganore, J Crook, T Lesnick, PJ Lockhart, KM Wilkes, G Kapatos, JA Hardy, MJ Farrer

Journal article  |  2002  |  Human Molecular Genetics

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

J Hussey, PJ Lockhart, W Seltzer, ZK Wszolek, H Payami, M Hanson, K Gwinn-Hardy, M Farrer

Journal article  |  2002  |  Genetic Testing

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3

PJ Lockhart, B Holtom, S Lincoln, J Hussey, A Zimprich, T Gasser, ZK Wszolek, J Hardy, MJ Farrer

Journal article  |  2002  |  Gene

SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings

M Farrer, Y Tsuboi, ML Klimek, R de la Fuente-Fernández, J Hussey, PJ Lockhart, DB Calne, O Suchowersky, AJ Stoessl, ZK Wszolek

Journal article  |  2002  |  Neurology

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

PJ Lockhart, S La Fontaine, SD Firth, M Greenough, J Camakaris, J Mercer

Journal article  |  2002  |  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes

AB West, A Zimprich, PJ Lockhart, M Farrer, A Singleton, B Holtom, S Lincoln, A Hofer, L Hill, B Muller-Myhsok, ZK Wszolek, J Hardy, T Gasser

Journal article  |  2001  |  European Journal of Human Genetics

Identification and characterization of the human parkin gene promoter

A West, M Farrer, L Petrucelli, M Cookson, P Lockhart, J Hardy

Journal article  |  2001  |  Journal of Neurochemistry

alpha-synuclein gene haplotypes are associated with Parkinson's disease

M Farrer, DM Maraganore, P Lockhart, A Singleton, TG Lesnick, M de Andrade, A West, R de Silva, J Hardy, D Hernandez

Journal article  |  2001  |  Human Molecular Genetics

α-synuclein gene haplotypes are associated with Parkinson's disease

M Farrer, DM Maraganore, P Lockhart, A Singleton, TG Lesnick, M De Andrade, A West, R De Silva, J Hardy, D Hernandez

Journal article  |  2001  |  Human Molecular Genetics

Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells

PJ Lockhart, JFB Mercer

Journal article  |  2001  |  European Journal of Cell Biology

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue

PJ Lockhart, SA Wilcox, HHM Dahl, JFB Mercer

Journal article  |  2000  |  Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B

PJ Lockhart, JFB Mercer

Journal article  |  2000  |  Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Cloning and expression analysis of the sheep ceruloplasmin cDNA

PJ Lockhart, JFB Mercer

Journal article  |  1999  |  Gene

Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo-blo) and brindled (Mo-br) mouse mutants

S La Fontaine, SD Firth, PJ Lockhart, H Brooks, J Camakaris, JFB Mercer

Journal article  |  1999  |  Human Molecular Genetics

The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein

D Strausak, S La Fontaine, J Hill, SD Firth, PJ Lockhart, JFB Mercer

Journal article  |  1999  |  Journal of Biological Chemistry

Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases

S La Fontaine, SD Firth, J Camakaris, A Englezou, MB Theophilos, MJ Petris, M Howie, PJ Lockhart, M Greenough, H Brooks, RR Reddel, JFB Mercer

Journal article  |  1998  |  Journal of Biological Chemistry

Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1)

S La Fontaine, SD Firth, PJ Lockhart, H Brooks, RG Parton, J Camakaris, JFB Mercer

Journal article  |  1998  |  Human Molecular Genetics

Eukaryotic expression vectors that replicate to low copy number in bacteria: Transient expression of the Menkes protein

S La Fontaine, SD Firth, PJ Lockhart, JA Paynter, JFB Mercer

Journal article  |  1998  |  Plasmid

Molecular basis of the brindled mouse mutant (Mo-br): A murine model of Menkes disease

A Grimes, CJ Hearn, P Lockhart, DF Newgreen, JFB Mercer

Journal article  |  1997  |  Human Molecular Genetics

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: A novel mechanism of regulated trafficking

MJ Petris, JFB Mercer, JG Culvenor, P Lockhart, PA Gleeson, J Camakaris

Journal article  |  1996  |  The EMBO Journal

GENE AMPLIFICATION OF THE MENKES (MNK, ATP7A) P-TYPE ATPASE GENE OF CHO CELLS IS ASSOCIATED WITH COPPER RESISTANCE AND ENHANCED COPPER EFFLUX

J CAMAKARIS, MJ PETRIS, L BAILEY, PY SHEN, P LOCKHART, TW GLOVER, CL BARCROFT, J PATTON, JFB MERCER

Journal article  |  1995  |  Human Molecular Genetics

EXPRESSION OF THE MENKES GENE HOMOLOG IN MOUSE-TISSUES LACK OF EFFECT OF COPPER ON THE MESSENGER-RNA LEVELS

JA PAYNTER, A GRIMES, P LOCKHART, JFB MERCER

Journal article  |  1994  |  FEBS Letters

MUTATIONS IN THE MURINE HOMOLOG OF THE MENKES GENE IN DAPPLED AND BLOTCHY MICE

JFB MERCER, A GRIMES, L AMBROSINI, P LOCKHART, JA PAYNTER, H DIERICK, TW GLOVER

Journal article  |  1994  |  Nature Genetics

ISOLATION OF CDNA CLONES OF THE MURINE HOMOLOG OF THE MENKES DISEASE GENE AND ANALYSIS OF THE MOTTLED MUTANTS

JFB MERCER, A GRIMES, JA PAYNTER, P LOCKHART, L AMBROSINI, H DIERICK, DM DANKS, TW GLOVER

Conference Proceedings  |  1993  |  AMERICAN JOURNAL OF HUMAN GENETICS

ISOLATION OF A PARTIAL CANDIDATE GENE FOR MENKES DISEASE BY POSITIONAL CLONING

JFB MERCER, J LIVINGSTON, B HALL, JA PAYNTER, C BEGY, S CHANDRASEKHARAPPA, P LOCKHART, A GRIMES, M BHAVE, D SIEMIENIAK, TW GLOVER

Journal article  |  1993  |  Nature Genetics

MOLECULAR-BIOLOGY OF PROTEINS INVOLVED IN COPPER TRANSPORT

JFB MERCER, A GRIMES, JA PAYNTER, P LOCKHART, M BHAVE

Conference Proceedings  |  1992  |  TRACE ELEMENTS : ROLES, RISKS AND REMEDIES

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

Paul Lockhart, Yujing Gao, Gabrielle R Wilson, Sarah EM Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A McLean, Paul Q Thomas, David I Finkelstein

Journal article

Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are ass..