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Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Among authors: lisanti mp. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
Sotgia F, Bonuccelli G, Minetti C, Woodman SE, Capozza F, Kemp RG, Scherer PE, Lisanti MP. Sotgia F, et al. Among authors: lisanti mp. Am J Pathol. 2003 Dec;163(6):2619-34. doi: 10.1016/S0002-9440(10)63616-4. Am J Pathol. 2003. PMID: 14633633 Free PMC article.
601 results