Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Paul J. Lockhart"'
Autor:
Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
Publikováno v:
Am J Hum Genet
The DNA damage-binding protein 1 (DDB1) is part of the CUL4-DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling, DNA replication, and signal transduction. Loss-of-function variants in genes encoding the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ab5c5b8f69c8ad3cfea21fe152f5f9
https://europepmc.org/articles/PMC8059373/
https://europepmc.org/articles/PMC8059373/
Autor:
Sarah E.M. Stephenson, Stéphanie Baulac, A. Simon Harvey, Paul J. Lockhart, Homa Adle-Biassette, Mathilde Chipaux, Sara Baldassari, Richard J. Leventer, Wirginia J. Maixner, Wei Shern Lee
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
Annals of Clinical and Translational Neurology, Wiley, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
International audience; Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain-specific somatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326295ddc42bc96e9f4b06e5006117c5
https://hal.sorbonne-universite.fr/hal-03425474
https://hal.sorbonne-universite.fr/hal-03425474
Autor:
Richard J. Leventer, Paul J. Lockhart, Allan E. Barnes, Marianna Baybis, Peter B. Crino, Philip H. Iffland
Publikováno v:
Neurobiology of Disease, Vol 114, Iss, Pp 184-193 (2018)
Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered ce
Autor:
Geneieve Tai, Susan Perlman, Martin B. Delatycki, Michael H Parkinson, Alexandra Durr, Marguerite V. Evans-Galea, Françoise Pousset, Paola Giunti, Lyle C. Gurrin, Robyn Labrum, Sarah Gelbard, Charles A. Galea, Eppie M. Yiu, David A. Lynch, Aamira Huq, Louise A. Corben, Paul J. Lockhart
Publikováno v:
Annals of Neurology. 79:485-495
Objective Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxi
Autor:
Alice Pébay, Louise A. Corben, Martin B. Delatycki, Mirella Dottori, Sze Hwee Ong, Marguerite V. Evans-Galea, Paul J. Lockhart
Publikováno v:
Human Gene Therapy. 25:684-693
Neurodegenerative disorders such as Friedreich ataxia (FRDA) present significant challenges in developing effective therapeutic intervention. Current treatments aim to manage symptoms and thus improve quality of life, but none can cure, nor are prove
Autor:
Sarah E.M. Stephenson, Louise A. Corben, Marguerite V. Evans-Galea, Paul J. Lockhart, Katrina J. Allen, Lyle C. Gurrin, Eppie M. Yiu, Martin B. Delatycki, David A. Lynch, Geneieve Tai
Publikováno v:
Movement Disorders. 29:940-943
BACKGROUND: Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in indiv
Autor:
Glenda M. Halliday, Matthew J. Farrer, Juliet M. Taylor, Yun Ju C. Song, Paul J. Lockhart, Martin B. Delatycki, Yue Huang
Publikováno v:
Neurobiology of Disease, Vol 27, Iss 2, Pp 238-247 (2007)
Mutations in parkin are a common cause of early-onset autosomal recessive Parkinson's disease. Parkin Co-Regulated Gene (PACRG) is a novel gene that was discovered because of its close genetic proximity to parkin and the two genes were subsequently d
Autor:
Geneieve Tai, Monika Praschberger, Andrew Churchyard, Martin B. Delatycki, Barbara Scheiber-Mojdehkar, Katherine J Lee, Sarah E.M. Stephenson, Louise A. Corben, Monique M. Ryan, Adam P. Vogel, Eppie M. Yiu, Gary Rance, Creina S. Stockley, Chung-Yung J. Lee, Marguerite V. Evans-Galea, Brigitte Sturm, Joseph P. Sarsero, Kevin D. Croft, Roger E. Peverill, Trevor A. Mori, Paul J. Lockhart
Publikováno v:
ResearcherID
Friedreich ataxia (FRDA) is due to a triplet repeat expansion in FXN, resulting in deficiency of the mitochondrial protein frataxin. Resveratrol is a naturally occurring polyphenol, identified to increase frataxin expression in cellular and mouse mod
Autor:
Chris McLendon, Michael G. Schlossmacher, Casey O'Farrell, Paul J. Lockhart, Mark R. Cookson, Matthew J. Farrer
Publikováno v:
Human Molecular Genetics. 12:2957-2965
The Parkin gene (PRKN) encodes an E3 protein-ubiquitin ligase for which loss of function is associated with autosomal-recessive juvenile (
Publikováno v:
Journal of Molecular Biology. 326:11-19
Mutations of the parkin gene on chromosome 6q25-27 are the predominant genetic cause of early-onset and autosomal recessive juvenile parkinsonism. Parkin is a multi-domain protein with ubiquitin–protein E3 ligase activity that has a role in the pro