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

Acta Neuropathologica

Volumn 127, Issue 5, 2014, Pages 761-777

  Roos, Andreas ^a,b   Buchkremer, Stephan ^a,b   Kollipara, Laxmikanth ^c   Labisch, Thomas ^a,b   Gatz, Christian ^a,b   Zitzelsberger, Manuela ^d   Brauers, Eva ^a,b   Nolte, Kay ^a,b   Schröder, J Michael ^a,b   Kirschner, Janbernd ^e   Jesse, Christopher Marvin ^a,b   Goebel, Hans Hilmar ^f   Goswami, Anand ^a,b   Zimmermann, Richard ^g   Zahedi, René Peiman ^c   Senderek, Jan ^d   Weis, Joachim ^a,b  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b JARA TRANSLATIONAL BRAIN MEDICINE   (Germany)

^c LEIBNIZ INSTITUT FÜR ANALYTISCHE WISSENSCHAFTEN ISAS E V   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^g SAARLAND UNIVERSITY   (Germany)

Author keywords

BiP (GRP78); Chaperonopathy; Marinesco Sj gren syndrome (MSS); Nuclear envelope; SIL1; Woozy mouse

Indexed keywords

CHAPERONE; CHAPERONE BIP; INITIATION FACTOR; NUCLEOTIDE EXCHANGE FACTOR SIL1; UNCLASSIFIED DRUG; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HEAT SHOCK PROTEIN; MOLECULAR CHAPERONE GRP78; SIL1 PROTEIN, HUMAN;

ADULT; ANIMAL TISSUE; ARTICLE; AUTOPHAGY; CELL NUCLEUS MEMBRANE; CELL VACUOLE; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MARINESCO SJOGREN SYNDROME; MOUSE; MUSCLE MITOCHONDRION; MYOPATHY; NONHUMAN; NUCLEAR LAMINA; PRIORITY JOURNAL; PROTEIN DEGRADATION; SARCOPLASMIC RETICULUM; SIL1 GENE; SKELETAL MUSCLE; ULTRASTRUCTURE; UNFOLDED PROTEIN RESPONSE; ANIMAL; CEREBELLUM; DISEASE MODEL; GENETICS; METABOLISM; MUSCLE DISEASE; MUTATION; PATHOLOGY; PHENOTYPE; SPINOCEREBELLAR DEGENERATION; YOUNG ADULT;

ADULT; ANIMALS; AUTOPHAGY; CEREBELLUM; DISEASE MODELS, ANIMAL; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HEAT-SHOCK PROTEINS; HUMANS; MALE; MICE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; NUCLEAR ENVELOPE; NUCLEAR LAMINA; PHENOTYPE; PROTEOLYSIS; SARCOPLASMIC RETICULUM; SPINOCEREBELLAR DEGENERATIONS; YOUNG ADULT;

EID: 84899970002     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-013-1224-4     Document Type: Article

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