Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Christine Yergeau"'
Autor:
Ariane Quintal, Isabelle Carreau, Annie-Danielle Grenier, Caroline Hébert, Christine Yergeau, Yves Berthiaume, Eric Racine
Publikováno v:
Journal of Participatory Medicine, Vol 15, p e46607 (2023)
BackgroundOwing to their low prevalence, rare diseases are poorly addressed in the scientific literature and clinical practice guidelines. Thus, health care workers are inadequately equipped to provide timely diagnoses, appropriate treatment, and sup
Externí odkaz:
https://doaj.org/article/69810e984ad4421b9d9a66ffb3c40ce2
Publikováno v:
PLoS Genetics, Vol 18, Iss 2 (2022)
Externí odkaz:
https://doaj.org/article/cdbea4b6cfe34771b33b5aed84047af9
Autor:
Mousumi Bose, Christine Yergeau, Yasmin D’Souza, David D. Cuthbertson, Melisa J. Lopez, Alyssa K. Smolen, Nancy E. Braverman
Publikováno v:
Cells, Vol 11, Iss 12, p 1891 (2022)
Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been des
Externí odkaz:
https://doaj.org/article/32cc8a7aeea94e1c98512eeaad904853
Publikováno v:
PLoS Genetics, Vol 15, Iss 9, p e1008376 (2019)
Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological diso
Externí odkaz:
https://doaj.org/article/7d475c845a66428895e4b3d9e1469429
Publikováno v:
American Journal of Medical Genetics Part A. 188:3229-3235
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with rhizomelic short stature, characteristic punctate epiphyseal calcifications, congenital cataract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80af882cd79aa5c3eb1580dbeb7cf692
https://doi.org/10.1002/ajmg.a.62959
https://doi.org/10.1002/ajmg.a.62959
Publikováno v:
Ear Hear
OBJECTIVES. Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in peroxisome function, biosynthesis, and/or assembly. Despite its frequent documentation, hearing loss associa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3885ef5e66b8a36bb44616d5ee857347
https://doi.org/10.1097/aud.0000000000001126
https://doi.org/10.1097/aud.0000000000001126
Autor:
Christine Yergeau, Razek Georges Coussa, Fares Antaki, Catherine Argyriou, Robert K. Koenekoop, Nancy E. Braverman
BackgroundZellweger Spectrum Disorder (ZSD) is caused by bi-allelic defects in any of 13PEXgenes, resulting in failure to form functional peroxisomes. Individuals manifest a wide spectrum of clinical phenotypes and severity, but almost all have retin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c32fb58a1c2db20ea29e74ceb3b3ef66
https://doi.org/10.1101/2022.11.06.22279732
https://doi.org/10.1101/2022.11.06.22279732
Autor:
Anthony Cheung, Catherine Argyriou, Christine Yergeau, Yasmin D’Souza, Émilie Riou, Sébastien Lévesque, Gerald Raymond, Mebratu Daba, Irakli Rtskhiladze, Tinatin Tkemaladze, Laura Adang, Roberta La Piana, Geneviève Bernard, Nancy Braverman
Publikováno v:
Neurogenetics. 23(2)
Peroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD)-are primarily autosomal recessive disorders caused by mutations in any of 13 PEX genes involved in peroxisome assembly. Compared to other PEX-related disorders, some PEX16 defects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0fda28f965dac0f00b4330a0bda577
https://pubmed.ncbi.nlm.nih.gov/35106698
https://pubmed.ncbi.nlm.nih.gov/35106698
Autor:
Wedad Fallatah, Monica Schouten, Hans R. Waterham, Marc Engelen, Bwee Tien Poll-The, Nancy Braverman, Erminia Di Pietro, Christine Yergeau
Publikováno v:
Journal of inherited metabolic disease, 44(4), 1021-1038. Springer Netherlands
Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in genes encoding peroxisomal proteins required for plasmalogen (PL) biosynthesis, specifically PEX7 and PEX5 receptors, or GNPAT, AGPS and FAR1 enzymes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2bd84611e57db27d162286cdfa331d
https://pubmed.ncbi.nlm.nih.gov/33337545
https://pubmed.ncbi.nlm.nih.gov/33337545
Autor:
Gerald V. Raymond, Yasmin D’Souza, Roberta La Piana, Mebratu Daba, Irakli Rtskhiladze, Catherine Argyriou, Christine Yergeau, Sébastien Lévesque, Anthony Cheung, Nancy Braverman, Emilie Riou, Geneviève Bernard, Tinatin Tkemaladze, Laura Adang
Publikováno v:
Molecular Genetics and Metabolism. 132:iv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7bfd53188e0a335bb028c9f36bff419
https://doi.org/10.1016/s1096-7192(21)00088-3
https://doi.org/10.1016/s1096-7192(21)00088-3