Adrenoleukodystrophy: Molecular Pathogenesis and Development of Therapeutic Agents
نویسندگان
چکیده
منابع مشابه
Molecular pathogenesis of ADPKD and development of targeted therapeutic options.
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by formation and progressive enlargement of cysts in kidneys, liver and other organs, leading to end stage renal disease by the fifth decade [1]. Mutations in the PKD1 gene encoding polycystin-1 are responsible for 85% of ADPKD cases, while mutations in the PKD2 gene cause 15% of ADPKD cases with a le...
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Adrenoleukodystrophy (ALD) is an X-linked inherited disorder that affects the central nervous system, peripheral nerves, adrenal cortex and testes. Also known as Schilder’s disease and sudanophillic leukodystrophy, ALD is a peroxisomal metabolic storage disease caused by mutations in the ABCD1 gene, involved in the degradation of very long-chain fatty acids (VLCFA). The consequent accumulation ...
متن کاملEditorial Comments Molecular pathogenesis of ADPKD and development of targeted therapeutic options
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease characterized by formation and progressive enlargement of cysts in kidneys, liver and other organs, leading to end stage renal disease by the fifth decade [1]. Mutations in the PKD1 gene encoding polycystin-1 are responsible for 85% of ADPKD cases, while mutations in the PKD2 gene cause 15% of ADPKD cases with a le...
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ژورنال
عنوان ژورنال: YAKUGAKU ZASSHI
سال: 2007
ISSN: 0031-6903,1347-5231
DOI: 10.1248/yakushi.127.1059