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Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Poppe M, Bourke J, Eagle M, Frosk P, Wrogemann K, Greenberg C, Muntoni F, Voit T, Straub V, Hilton-Jones D, Shirodaria C, Bushby K. Poppe M, et al. Among authors: wrogemann k. Ann Neurol. 2004 Nov;56(5):738-41. doi: 10.1002/ana.20283. Ann Neurol. 2004. PMID: 15505776
The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB.
Albor A, El-Hizawi S, Horn EJ, Laederich M, Frosk P, Wrogemann K, Kulesz-Martin M. Albor A, et al. Among authors: wrogemann k. J Biol Chem. 2006 Sep 1;281(35):25850-66. doi: 10.1074/jbc.M601655200. Epub 2006 Jun 30. J Biol Chem. 2006. PMID: 16816390 Free article.
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: wrogemann k. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560
89 results