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UnknownGermline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Not available
S-EPMC10235935 | biostudies-literature
UnknownCLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.
Not available
S-EPMC11975511 | biostudies-literature
UnknownMitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Not available
S-EPMC2443844 | biostudies-literature
UnknownPathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Not available
S-EPMC7820787 | biostudies-literature
UnknownMutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.
Not available
S-EPMC12756002 | biostudies-literature
ProteomicsIntracellular lipid accumulation and mitochondrial dysfunction accompanies ER-stress caused by loss of the co-chaperone DNAJC3
Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-chaperone, have been identified in patients with multisystemic neurodegeneration and diabetes mellitus. To further unravel these pathomechanisms we employed a non-biased proteomic approach and identified dysregulation of s...
ORGANISM(S): Homo sapiens (Human) 
2022-02-15 | PXD028168 | Pride
Bip Cholesterol-stress Chaperonopathy Neuroproteomics Β-amyloid 
ProteomicsTracking effects of SIL1 increase: taking a closer look beyond the consequences of elevated expression level
SIL1 acts as a co-chaperone for the major ER-resident chaperone BiP and thus plays a role in many BiP-dependent cellular functions such as protein folding control and unfolded protein response. Whereas increase of BiP upon cellular stress conditions is a well-known phenomenon, elevation of SIL1 unde...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD005218 | Pride
Bip/ grp78 Hyou1/ grp170 Marinesco-sjögren syndrome Co-chaperone Chaperonopathy Neuroprotection 
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