Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Oct 2012

Williams Kelly L, Warraich Sadaf T, Yang Shu, Solski Jennifer A, Fernando Ruvini, Rouleau Guy A, Nicholson Garth A, Blair Ian P

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) shows clinical and pathological overlap with frontotemporal dementia that includes the presence of hallmark ubiquitinated inclusions in affected neurons. Mutations in UBQLN2, which encodes ubiquilin 2, were recently identified in X-linked juvenile and adult-onset ALS and ALS/dementia. As part of an established exome sequencing program to identify disease genes in familial ALS,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ubiquitins
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis

Share to Autophagy-Related Proteins

Share to Inclusion Bodies

Share to RNA-Binding Protein FUS

Share to Spinal Cord

Share to TDP-43 Proteinopathies

Source

Identifiers

PMID: 22717235
DOI: 10.1016/j.neurobiolaging.2012.05.008

Genes

UBQLN2
FUS

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.PMID 22717235Read ↗

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.Semantic proximity Read ↗

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.Semantic proximity Read ↗

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.Semantic proximity Read ↗

UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis.Semantic proximity Read ↗

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.Semantic proximity Read ↗

A meta-analysis of genetic variant pathogenicity and sex differences in<i>UBQLN2</i>-linked amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read ↗

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in <i>UBQLN2</i> p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype.Semantic proximity Read ↗

ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.