Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap Elite
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Kidney Cell
SUBMITTER: René Zahedi
LAB HEAD: René Peiman Zahedi
PROVIDER: PXD001197 | Pride | 2017-02-28
REPOSITORIES: Pride
Roos Andreas A Kollipara Laxmikanth L Buchkremer Stephan S Labisch Thomas T Brauers Eva E Gatz Christian C Lentz Chris C Gerardo-Nava José J Weis Joachim J Zahedi René P RP
Molecular neurobiology 20151014 8
SIL1 acts as nucleotide exchange factor for the endoplasmic reticulum chaperone BiP. Mutations of SIL1 cause Marinesco-Sjögren syndrome (MSS), a neurodegenerative disorder. Moreover, a particular function of SIL1 for etiopathology of amyotrophic lateral sclerosis (ALS) was highlighted, thus declaring the functional SIL1-BiP complex as a modifier for neurodegenerative disorders. Thereby, depletion of SIL1 was associated with an earlier manifestation and in strengthened disease progression in ALS. ...[more]