Zobrazeno 1 - 10
of 416
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Paulina Dabrowska‐Schlepp, Andreas Busch, Jin‐Song Shen, Rachel Y. Cheong, Lone Bruhn Madsen, Daniel Mascher, Raphael Schiffmann, Andreas Schaaf
Publikováno v:
JIMD Reports, Vol 64, Iss 6, Pp 460-467 (2023)
Abstract Fabry disease (FD, OMIM 301500) is a rare X‐linked inherited lysosomal storage disorder associated with reduced activities of α‐galactosidase A (aGal, EC 3.2.1.22). The current standard of care for FD is based on enzyme replacement ther
Externí odkaz:
https://doaj.org/article/022e2d6d730d4b30aa55b3a684353bb0
Autor:
Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regr
Externí odkaz:
https://doaj.org/article/069bc339519c472a91b38f2db7cff481
Autor:
William C. Hallows, Kristen Skvorak, Nick Agard, Nikki Kruse, Xiyun Zhang, Yu Zhu, Rachel C. Botham, Chinping Chng, Charu Shukla, Jessica Lao, Mathew Miller, Antoinette Sero, Judy Viduya, Moulay Hicham Alaoui Ismaili, Kerryn McCluskie, Raphael Schiffmann, Adam P. Silverman, Jin-Song Shen, Gjalt W. Huisman
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Fabry disease is caused by a deficiency of α-galactosidase A (GLA) leading to the lysosomal accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids. Fabry patients experience significant damage to the heart, kidney, and blo
Externí odkaz:
https://doaj.org/article/b25ba72e3abd48129972a8895661aad7
Autor:
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)
Externí odkaz:
https://doaj.org/article/193ab1baaba843d9bdec0a40ad755c5d
Autor:
Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100919- (2022)
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues. The molecular process through which this abnormal metabolis
Externí odkaz:
https://doaj.org/article/1a8df2290a0e4d9c86cc9139ef242318
Autor:
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen
Publikováno v:
Journal of Lipid Research, Vol 61, Iss 11, Pp 1410-1423 (2020)
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb
Externí odkaz:
https://doaj.org/article/f6fe6c479ae44181953dc65f8c6f0431
Autor:
Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100807- (2021)
Externí odkaz:
https://doaj.org/article/f9b02964e6f646bc9cee6c10c8e6d13b
Autor:
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an addition
Externí odkaz:
https://doaj.org/article/b313ae0552894ab4b545c7fc6b8eee71
Autor:
Antony Cougnoux, Rebecca A. Drummond, Mason Fellmeth, Fatemeh Navid, Amanda L. Collar, James Iben, Ashok B. Kulkarni, James Pickel, Raphael Schiffmann, Christopher A. Wassif, Niamh X. Cawley, Michail S. Lionakis, Forbes D. Porter
Publikováno v:
Journal of Neuroinflammation, Vol 16, Iss 1, Pp 1-12 (2019)
Abstract Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies. Depending on the affected m
Externí odkaz:
https://doaj.org/article/7536ce5bd31a4b64979c1f6f4a63ba3a
Autor:
Daniel G. Bichet, Roser Torra, Eric Wallace, Derralynn Hughes, Roberto Giugliani, Nina Skuban, Eva Krusinska, Ulla Feldt-Rasmussen, Raphael Schiffmann, Kathy Nicholls
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100786- (2021)
The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERT-experienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical trials and open-label extensi
Externí odkaz:
https://doaj.org/article/3840e284e7ef415e9f42f64e9adb467f