Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Page 1 of 1
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Jon Moulton Mon Apr 28, 2014 4:07 pm
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
» Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
» Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
» FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
» Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy
» Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
» Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
» FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
» Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum