Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Gabrielle R, Wilson"'
Autor:
Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parkinsonism. In this study we investigated the expression and localization of RAB39B (RNA and protein) in mouse bra
Externí odkaz:
https://doaj.org/article/027707985bc448319d5f94d16f51b9b5
Autor:
Yujing Gao, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Paul J. Lockhart
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, an
Externí odkaz:
https://doaj.org/article/36556d5a724643878e9ca318c6408758
Autor:
Yujing Gao, Gabrielle R. Wilson, Kiymet Bozaoglu, Andrew G. Elefanty, Edouard G. Stanley, Mirella Dottori, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 28, Iss , Pp 161-164 (2018)
Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carrying two independent deletions of RAB39B were generated using CRISPR/Cas9 genome editing tool. The deletions were confirme
Externí odkaz:
https://doaj.org/article/ba0bd565fea048aa953748f879e21cf8
Autor:
David Finkelstein, Mustapha Oulad-Abdelghani, Kiymet Bozaoglu, Catriona McLean, Nicolas Charlet-Berguerand, Yujing Gao, Paul Q. Thomas, Sarah E.M. Stephenson, Paul J. Lockhart, Gabrielle R. Wilson
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
Molecular Brain
Molecular Brain, BioMed Central, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩
Molecular Brain
Molecular Brain, BioMed Central, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩
Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parkinsonism. In this study we investigated the expression and localization of RAB39B (RNA and protein) in mouse brain tissue
Autor:
Darren M. Roberts, Ingrid Berling, Thomas D. Nolin, Badria Alhatali, Greene Shepherd, Sophie Gosselin, Marc Ghannoum, Robert S. Hoffman, Valery Lavergne, Joshua D. King, Gabrielle R. Wilson
Publikováno v:
J Am Soc Nephrol
BACKGROUND: Although chloroquine, hydroxychloroquine, and quinine are used for a range of medical conditions, recent research suggested a potential role in treating COVID-19. The resultant increase in prescribing was accompanied by an increase in adv
Autor:
Yujing Gao, Sarah E.M. Stephenson, Kiymet Bozaoglu, Paul J. Lockhart, Gabrielle R. Wilson, Matthew J. Farrer
Publikováno v:
Movement Disorders. 33:196-207
The identification of pathogenic mutations in Ras analog in brain 39B (RAB39B) and Ras analog in brain 32 (RAB32) that cause Parkinson's disease (PD) has highlighted the emerging role of protein trafficking in disease pathogenesis. Ras analog in brai
Autor:
Sarah E.M. Stephenson, Ruth Djaldetti, Paul J. Lockhart, Melanie Bahlo, Greta Gillies, Haloom Rafehi, Gabrielle R. Wilson
Publikováno v:
Parkinsonismrelated disorders. 64
Background Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date, 30 individuals harbouring 20 unique causative variants have been described. Understanding of the spectrum of clinical f
Autor:
Peter Hickey, Raymond C.B. Wong, Paul J. Lockhart, Andrew M. Davis, David A. Anderson, Paul A. James, Kate Pope, Edouard G. Stanley, Ivan Macciocca, Andrew G. Elefanty, Dean Phelan, Micheal M H Cheung, David J. Amor, Alice Pébay, David A. Elliott, Sara E. Howden, Gabrielle R. Wilson, Steven Petrou, Melanie Bahlo
Publikováno v:
European Heart Journal. 37:2586-2590
Aims We identified a novel homozygous truncating mutation in the gene encoding alpha kinase 3 ( ALPK3 ) in a family presenting with paediatric cardiomyopathy. A recent study identified biallelic truncating mutations of ALPK3 in three unrelated famili
Autor:
Sheena Li Ming Ong, Alexander P.A. Stegmann, David J. Amor, Evelyn Yaqiong Tao, Julian L. Goggi, Thomas J. Carney, Norris R. Dunn, Thomas S. Scerri, Barry J. Coull, Arnette Shi Wei Wong, Paul J. Lockhart, Melanie Bahlo, Dominic Grussu, Gabrielle R. Wilson, Maurice A.M. van Steensel, Ivo J. H. M. de Vos, Renske Janssen, Michel van Geel, Chernis Guai Mun Low
Publikováno v:
Human Molecular Genetics, 27(16), 2775-2788. Oxford University Press
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation inMMP14, encoding the membrane-bound matrix metallopr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43255ad9f8f58fef9c35dce662d171
https://doi.org/10.1101/281485
https://doi.org/10.1101/281485
Autor:
Ivo J H M, 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 P A, Stegmann, Michel, van Geel, Renske, Janssen, David J, Amor, Melanie, Bahlo, Norris R, Dunn, Thomas J, Carney, Paul J, Lockhart, Barry J, Coull, Maurice A M, van Steensel
Publikováno v:
Human Molecular Genetics
Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metallop