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Article

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

The Journal of clinical investigation - 1 Sept 2009

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

Abstract excerpt

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 expressed exclusively in skeletal and cardiac muscle, have been linked to muscular dystrophy. Polymerase I and...

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Share to Caveolin 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19726876
DOI: 10.1172/JCI38660
PMCID: PMC2735915

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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