Alison Compton

The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Lisa G Riley, Joelle Rudinger-Thirion, Magali Frugier, Meredith Wilson, Melissa Luig, Thushari Indika Alahakoon, Cheng Yee Nixon, Edwin P Kirk, Tony Roscioli, Sebastian Lunke, Zornitza Stark, Klaas J Wierenga, Sirish Palle, Maie Walsh, Emily Higgs, Susan Arbuckle, Shalini Thirukeswaran, Alison G Compton, David R Thorburn, John Christodoulou

Journal article  |  2020  |  Human Mutation

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an inf..

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu SC Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, et al.

Journal article  |  2020  |  Med

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.

Daniella H Hock, Boris Reljic, Ching-Seng Ang, Linden Muellner-Wong, Hayley S Mountford, Alison G Compton, Michael T Ryan, David R Thorburn, David A Stroud

Journal article  |  2020  |  Molecular & Cellular Proteomics

Assembly factors play a critical role in the biogenesis of mitochondrial respiratory chain complexes I-IV where they assist in the..

RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.

Guy Helman, Alison Compton, Daniella Hock, Marzena Walkiewicz, Gemma Brett, Lynn Pais, Tiong Tan, Ricardo De Paoli-Iseppi, Michael Clark, John Christodoulou, Susan White, David Thorburn, David Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020

The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, David R Thorburn, Rocio Rius, Alison G Compton, Minal J Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal article  |  2020  |  Genetics in Medicine

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Functional consequences of bi-allelic PNPT1 variants associated with multisystemic disease

R Rius, LG Riley, NJ Van Bergen, AG Compton, DJ Amor, M Kava, S Balasubramaniam, M Fanjul-Fernandez, M Cowley, M Fahey, TY Tan, DR Thorburn, J Christodoulou

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Nicole J Lake, Luke E Formosa, David A Stroud, Michael T Ryan, Sarah E Calvo, Vamsi K Mootha, Bharti Morar, Peter G Procopis, John Christodoulou, Alison G Compton, David R Thorburn

Journal article  |  2019  |  Human Mutation

Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with..

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

Ann E Frazier, David R Thorburn, Alison G Compton

Journal article  |  2019  |  Journal of Biological Chemistry

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Hannah Hayhurst, Irenaeus FM de Coo, Dorota Piekutowska-Abramczuk, Charlotte L Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elzbieta Ciara, Nicole J Lake, Alison G Compton, Martin B Delatycki, Aad Verrips, Penelope E Bonnen, Simon A Jones, Andrew A Morris, David Shakespeare, John Christodoulou, et al.

Journal article  |  2019  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams, Carolyn Ellaway, David R Thorburn, Hakon Hakonarson, John Christodoulou

Journal article  |  2019  |  Molecular Genetics and Metabolism

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D Sherpa, Eric E Schadt, Sander M Houten, James Byrnes, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, et al.

Journal article  |  2017  |  The American Journal of Human Genetics

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice LR Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, et al.

Journal article  |  2017  |  Brain

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Olahova, Tobias B Haack, Joel Smet, Katrien Stouffs, Peter Diakumis, Elzbieta Ciara, David Cassiman, Nadine Romain, John W Yarham, Langping He, Boel De Paepe, Arnaud V Vanlander, Sara Seneca, Rene G Feichtinger, Rafal Poski, Dariusz Rokicki, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

Leigh syndrome: One disorder, more than 75 monogenic causes

Nicole J Lake, Alison G Compton, Shamima Rahman, David R Thorburn

Journal article  |  2016  |  Annals of Neurology

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review

Dylan A Mordaunt, Alexandra Jolley, Shanti Balasubramaniam, David R Thorburn, Hayley S Mountford, Alison G Compton, Jillian Nicholl, Nicholas Manton, Damian Clark, Drago Bratkovic, Kathryn Friend, Sui Yu

Journal article  |  2015  |  American Journal of Medical Genetics Part A

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Raman Kumar, Mark A Corbett, Nicholas JC Smith, Lachlan A Jolly, Chuan Tan, Damien J Keating, Michael D Duffield, Toshihiko Utsumi, Koko Moriya, Katherine R Smith, Alexander Hoischen, Kim Abbott, Michael G Harbord, Alison G Compton, Joshua A Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris A Veltman, et al.

Journal article  |  2015  |  Human Molecular Genetics

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome

Taro Yamazaki, Kei Murayama, Alison G Compton, Canny Sugiana, Hiroko Harashima, Shin Amemiya, Masami Ajima, Tomoko Tsuruoka, Ayako Fujinami, Emi Kawachi, Yoshiko Kurashige, Kenshi Matsushita, Hiroshi Wakiguchi, Masato Mori, Hiroyasu Iwasa, Yasushi Okazaki, David R Thorburn, Akira Ohtake

Journal article  |  2014  |  Pediatrics International

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Journal article  |  2014  |  American Journal of Human Genetics

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya, Gunter H Scharer, Joseph Aicher, Geralyn Creadon-Swindell, Elizabeth Geiger, Kenneth N MacLean, Wang-Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene B Rasmussen, Allan M Lund, Peter Procopis, Jessie M Cameron, Brian H Robinson, et al.

Journal article  |  2014  |  Brain

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Elena J Tucker, Bas FJ Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariel AM van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljic, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

Journal article  |  2013  |  PLOS GENETICS

Mutations in LYRM4, encoding ironsulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkuehler, David R Thorburn, Alison G Compton

Journal article  |  2013  |  Human Molecular Genetics

Next-Generation Sequencing in Molecular Diagnosis: NUBPL Mutations Highlight the Challenges of Variant Detection and Interpretation

Elena J Tucker, Masakazu Mimaki, Alison G Compton, Matthew McKenzie, Michael T Ryan, David R Thorburn

Journal article  |  2012  |  Human Mutation

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe, John Christodoulou, Janice M Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R Thorburn, Vamsi K Mootha

Journal article  |  2012  |  Science Translational Medicine

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

Matthew McKenzie, Elena J Tucker, Alison G Compton, Michael Lazarou, Christa George, David R Thorburn, Michael T Ryan

Journal article  |  2011  |  Journal of Molecular Biology

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Elena J Tucker, Steven G Hershman, Caroline Koehrer, Casey A Belcher-Timme, Jinal Patel, Olga A Goldberger, John Christodoulou, Jonathon M Silberstein, Matthew McKenzie, Michael T Ryan, Alison G Compton, Jacob D Jaffe, Steven A Carr, Sarah E Calvo, Uttam L RajBhandary, David R Thorburn, Vamsi K Mootha

Journal article  |  2011  |  Cell Metabolism

The Molecular Basis of Human Complex I Deficiency

Elena J Tucker, Alison G Compton, Sarah E Calvo, David R Thorburn

Journal article  |  2011  |  IUBMB Life

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Helen Swalwell, Denise M Kirby, Emma L Blakely, Anna Mitchell, Renato Salemi, Canny Sugiana, Alison G Compton, Elena J Tucker, Xia Ke, Phillipa J Lamont, Douglass M Turnbull, Robert McFarland, Robert W Taylor, David R Thorburn

Journal article  |  2011  |  European Journal of Human Genetics

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome

Alison G Compton, Christopher Troedson, Meredith Wilson, Peter G Procopis, Fang-Yuan Li, Ellen K Brundage, Taro Yamazaki, David R Thorburn, Lee-Jun C Wong

Journal article  |  2011  |  Mitochondrion

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn, Vamsi K Mootha

Journal article  |  2010  |  Nature Genetics

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome

Lisa G Riley, Sandra Cooper, Peter Hickey, Joelle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giege, Melanie Bahlo, John Christodoulou

Journal article  |  2010  |  American Journal of Human Genetics

Recent Advances in the Genetics of Mitochondrial Encephalopathies

Elena J Tucker, Alison G Compton, David R Thorburn

Journal article  |  2010  |  Current Neurology and Neuroscience Reports

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Alison G Compton, Douglas E Albrecht, Jane T Seto, Sandra T Cooper, Biljana Ilkovski, Kristi J Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C Froehner, Kathryn N North

Journal article  |  2008  |  American Journal of Human Genetics

Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients

Carol G Au, Tanya L Butler, Jonathan R Egan, Sandra T Cooper, Harriet P Lo, Alison G Compton, Kathryn N North, David S Winlaw

Journal article  |  2008  |  Acta Neuropathologica

Diagnosis and etiology of congenital muscular dystrophy

RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, SJ Kaufman, SR Lamande, KN North

Journal article  |  2008  |  Neurology

Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

Harriet P Lo, Sandra T Cooper, Frances J Evesson, Jane T Seto, Maria Chiotis, Valerie Tay, Alison G Compton, Anita G Cairns, Alistair Corbett, Daniel G MacArthur, Nan Yang, Katrina Reardon, Kathryn N North

Journal article  |  2008  |  Neuromuscular Disorders

The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders

AG Compton, ST Cooper, PM Hill, N Yang, SC Froehner, KN North

Journal article  |  2005  |  Journal of Neuropathology and Experimental Neurology

Expression of aquaporin 1 in human cardiac and skeletal muscle

CG Au, ST Cooper, HP Lo, AG Compton, N Yang, EM Wintour, KN North, DS Winlaw

Journal article  |  2004  |  Journal of Molecular and Cellular Cardiology

Expression of aquaporin 1 in human heart and skeletal muscle

CG AU, ST Cooper, HP Lo, AG Compton, N Yang, EM Wintour, KN North, DS Winlaw

Journal article  |  2004  |  Journal of Molecular and Cellular Cardiology

Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy

KJ Jones, AG Compton, N Yang, MA Mills, MF Peters, D Mowat, LM Kunkel, SC Froehner, KN North

Journal article  |  2003  |  Neuromuscular Disorders