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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
Cao H, Alston L, Ruschman J, Hegele RA
Lipids Health Dis
2008,
7
:3
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PubMed Central articles that cite the above article:
1.
Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance.
Liu L, Brown D, McKee M, Lebrasseur NK, Yang D, Albrecht KH, Ravid K, Pilch PF
Cell Metab
2008 Oct,
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Caveolin-2 is required for apical lipid trafficking and suppresses basolateral recycling defects in the intestine of Caenorhabditis elegans.
Parker S, Walker DS, Ly S, Baylis HA
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2009 Mar,
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Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
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
J Clin Invest
2009 Sep,
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Overexpression of caveolins in Caenorhabditis elegans induces changes in egg-laying and fecundity.
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