Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
نویسندگان
چکیده
منابع مشابه
Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs
Charcot-Marie-Tooth disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication. Previous studies of CMT1A mainly relied on rodent models, and it is not yet clear how PMP22 overexpression leads to the phenotype in patients. Here, we generated the human induced pluripotent stem cell (hiPSC) lines from two CMT1A patients as an in ...
متن کاملFamilial dysautonomia.
Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...
متن کاملModelling familial dysautonomia in human induced pluripotent stem cells.
Induced pluripotent stem (iPS) cells have considerable promise as a novel tool for modelling human disease and for drug discovery. While the generation of disease-specific iPS cells has become routine, realizing the potential of iPS cells in disease modelling poses challenges at multiple fronts. Such challenges include selecting a suitable disease target, directing the fate of iPS cells into sy...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
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ژورنال
عنوان ژورنال: Nature
سال: 2009
ISSN: 0028-0836,1476-4687
DOI: 10.1038/nature08320