Article
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.
Acta neuropathologica - 1 May 2014
Roos Andreas, Buchkremer Stephan, Kollipara Laxmikanth, Labisch Thomas, Gatz Christian, Zitzelsberger Manuela, Brauers Eva, Nolte Kay, Schröder J Michael, Kirschner Janbernd, Jesse Christopher Marvin, Goebel Hans Hilmar, Goswami Anand, Zimmermann Richard, Zahedi René Peiman, Senderek Jan, Weis Joachim
Abstract excerpt
Marinesco-Sjögren syndrome (MSS) features cerebellar ataxia, mental retardation, cataracts, and progressive vacuolar myopathy with peculiar myonuclear alterations. Most MSS patients carry homozygous or compound heterozygous SIL1 mutations. SIL1 is a nucleotide exchange factor for the endoplasmic reticulum resident chaperone BiP which controls a plethora of essential processes in the endoplasmic reticulum. In this...
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