Hill MM, Bastiani M, Luetterforst R, Kirkham M, Kirkham A, Nixon SJ, Walser P, Abankwa D, Oorschot VM, Martin S, Hancock JF, Parton RG

PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function.

Cell 132:113-24 (2008)
DOI:10.1016/j.cell.2007.11.042

[mmu:19285]

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I

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

J Clin Invest 119:2623-33 (2009)
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[hsa:284119]