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Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.Pathogenic Hijacking of ER-Associated Degradation: Is ERAD Flexible?Neuromuscular regulation in zebrafish by a large AAA+ ATPase/ubiquitin ligase, mysterin/RNF213Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric stateProteotoxic stress and ageing triggers the loss of redox homeostasis across cellular compartments.MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.Alternative exon skipping biases substrate preference of the deubiquitylase USP15 for mysterin/RNF213, the moyamoya disease susceptibility factorDual-site recognition of different extracellular matrix components by anti-angiogenic/neurotrophic serpin, PEDF.Gp78 cooperates with RMA1 in endoplasmic reticulum-associated degradation of CFTRDeltaF508.Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.Nuclear export of ubiquitinated proteins via the UBIN-POST system.The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormalityThe AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0003-2263-8200
@en
name
Daisuke Morito
@ast
Daisuke Morito
@en
Daisuke Morito
@es
Daisuke Morito
@nl
type
label
Daisuke Morito
@ast
Daisuke Morito
@en
Daisuke Morito
@es
Daisuke Morito
@nl
prefLabel
Daisuke Morito
@ast
Daisuke Morito
@en
Daisuke Morito
@es
Daisuke Morito
@nl
P106
P1153
6504502661
P31
P496
0000-0003-2263-8200