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ProteomicsSIL1-depleted HEK293 cells - Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery
Marinesco-Sjögren syndrome (MSS) is a neurodegenerative disorder caused by autosomal recessive SIL1 mutations. SIL1 acts as a nucleotide exchange factor for the endoplasmic reticulum (ER) resident chaperone BiP. As BiP controls many ER-related processes, it is likely to contribute to MSS pathology. ...
ORGANISM(S): Homo sapiens (Human) 
2017-02-28 | PXD001197 | Pride
Hek293 Sil1 Proteome 
UnknownC-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjogren syndrome.
Not available
S-EPMC3318681 | biostudies-literature
ProteomicsSIL1 deficiency in lymphoblastoid cells: antagonizing cellular mechanisms and insights into selective vulnerability in Marinesco-Sjögren syndrome
Patients with Marinesco-Sjögren syndrome and gene targeting in mice revealed an essential role for the SIL1/Sil1 gene in maintenance of central nervous tissue and skeletal muscle. SIL1/Sil1 expression is not restricted to a certain tissue, and the gene product, SIL1/Sil1, localizes to the (sarco)end...
ORGANISM(S): Homo sapiens (Human) 
2017-10-10 | PXD003030 | Pride
Human Ebv-lymphoblastoid cells Sil1 mutations 
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009297 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009272 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
UnknownSIL1, a causative cochaperone gene of Marinesco-Sojgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
Not available
S-EPMC3958314 | biostudies-literature
UnknownProteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.
Not available
S-EPMC8620507 | biostudies-literature
UnknownSil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion.
Not available
S-EPMC4310734 | biostudies-literature
UnknownSIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology.
Not available
S-EPMC5992605 | biostudies-literature
UnknownINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Not available
S-EPMC8418339 | biostudies-literature
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