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ProteomicsUbiquilin interactomes from Fly
Mutations in Ubiquilins, UBQLN2, and UBQLN4 cause familial ALS. The role of UBQLNs in proteasomal degradation is well established but their role in autophagy-lysosomal clearance is poorly defined. Here, we performed Ubqn-GFP pull down from fly samples to find Ubqn binding partners.
ORGANISM(S): Drosophila <fruit Fly, Genus> (ncbitaxon:7215) 
2018-12-18 | MSV000083259 | MassIVE
UnknownRecurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Objective

ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy...
S-EPMC10963296 | biostudies-literature
UnknownDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amin...
S-EPMC6699142 | biostudies-literature
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