Gabi Wilson

Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort

Yujing Gao, Gabrielle R Wilson, Nicholas Salce, Alexandra Romano, George D Mellick, Sarah EM Stephenson, Paul J Lockhart

Journal article  |  2020  |  FRONTIERS IN NEUROLOGY

Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked ea..

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

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

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

Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joi..

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

Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carryi..

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

The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parki..

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

AIMS: We identified a novel homozygous truncating mutation in the gene encoding alpha kinase 3 (ALPK3) in a family presenting with..

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  |  AMERICAN JOURNAL OF HUMAN GENETICS

Advances in understanding the etiology of Parkinson disease have been driven by the identification of causative mutations in famil..

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

Borrone Dermato-Cardio-Skeletal (BDCS) syndrome is a severe progressive autosomal recessive disorder characterized by coarse facie..

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..