Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Caveolae are invaginations of the plasma membrane involved in many cellular processes, including clathrin-independent endocytosis, cholesterol transport, and signal transduction. They are characterized by the presence of caveolin proteins. Mutations that cause deficiency in caveolin-3, which is expr...

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Hauptverfasser: Hayashi, Yukiko K., Matsuda, Chie, Ogawa, Megumu, Goto, Kanako, Tominaga, Kayo, Mitsuhashi, Satomi, Park, Young-Eun, Nonaka, Ikuya, Hino-Fukuyo, Naomi, Haginoya, Kazuhiro, Sugano, Hisashi, Nishino, Ichizo
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2009
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2735915/
https://ncbi.nlm.nih.gov/pubmed/19726876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI38660
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