Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

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

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.

Affiliation

Roos A; Institute of Neuropathology, RWTH Aachen University Hospital, Pauwelsstr. 30, 52074, Aachen, Germany, aroos@ukaachen.de.

Acta Neuropathol ; 127(5): 761-77, 2014 May.

Article in En | MEDLINE | ID: mdl-24362440

Subject(s)

Guanine Nucleotide Exchange Factors/metabolism; Muscular Diseases/pathology; Nuclear Envelope/pathology; Spinocerebellar Degenerations/pathology; Adult; Animals; Autophagy; Cerebellum/pathology; Disease Models, Animal; Endoplasmic Reticulum Chaperone BiP; Female; Guanine Nucleotide Exchange Factors/genetics; Heat-Shock Proteins/metabolism; Humans; Male; Mice; Muscle, Skeletal/metabolism; Muscle, Skeletal/pathology; Muscular Diseases/metabolism; Mutation; Nuclear Envelope/metabolism; Nuclear Lamina/metabolism; Nuclear Lamina/pathology; Phenotype; Proteolysis; Sarcoplasmic Reticulum/metabolism; Sarcoplasmic Reticulum/pathology; Spinocerebellar Degenerations/metabolism; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Spinocerebellar Degenerations / Guanine Nucleotide Exchange Factors / Muscular Diseases / Nuclear Envelope Type of study: Prognostic_studies Limits: Adult / Animals / Female / Humans / Male Language: En Year: 2014 Type: Article

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