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Article

Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS.

Human molecular genetics - 15 Jan 2018

Kim Sang Hwa, Stiles Shannon G, Feichtmeier Joseph M, Ramesh Nandini, Zhan Lihong, Scalf Mark A, Smith Lloyd M, Pandey Udai Bhan, Tibbetts Randal S

Abstract excerpt

Members of the conserved ubiquilin (UBQLN) family of ubiquitin (Ub) chaperones harbor an antipodal UBL (Ub-like)-UBA (Ub-associated) domain arrangement and participate in proteasome and autophagosome-mediated protein degradation. Mutations in a proline-rich-repeat region (PRR) of UBQLN2 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD); however, neither the normal functions of the PRR nor...

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Source

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Identifiers

PMID: 29161404
DOI: 10.1093/hmg/ddx403
PMCID: PMC5886165

Genes

UBQLN2
UBQLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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