Gabi Wilson

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

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..

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

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

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

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 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

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..

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

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

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

IL-12p40 and IL-18 in Crescentic Glomerulonephritis: IL-12p40 is the Key Th1-Defining Cytokine Chain, Whereas IL-18 Promotes Local Inflammation and Leukocyte Recruitment

A Richard Kitching, Amanda L Turner, Gabrielle RA Wilson, Timothy Semple, Dragana Odobasic, Jennifer R Timoshanko, Kim M O’Sullivan, Peter G Tipping, Kiyoshi Takeda, Shizuo Akira, Stephen R Holdsworth

Journal article  |  2005  |  Journal of the American Society of Nephrology

Experimental autoimmune Goodpasture's disease: A pathogenetic role for both effector cells and antibody in injury

Elizabeth G Dean, Gabrielle RA Wilson, Ming Li, Kristy L Edgtton, KIMM O'Sullivan, Billy G Hudson, Stephen R Holdsworth, A Richard Kitching

Journal article  |  2005  |  Kidney International

Endogenous IL-13 Limits Humoral Responses and Injury in Experimental Glomerulonephritis but Does Not Regulate Th1 Cell-Mediated Crescentic Glomerulonephritis

AR Kitching

Journal article  |  2004  |  Journal of the American Society of Nephrology

Experimental Autoimmune Anti-Glomerular Basement Membrane Glomerulonephritis: A Protective Role for IFN-

AR Kitching

Journal article  |  2004  |  Journal of the American Society of Nephrology