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 variant of unknown significance in frontotemporal lobar degeneration.

Neurobiology of aging - 1 Jan 2015

Ugwu Francis, Rollinson Sara, Harris Jenny, Gerhard Alex, Richardson Anna, Jones Matt, Mann David, Snowden Julie, Pickering-Brown Stuart

Abstract excerpt

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a disease spectrum. However, with the exception of C9orf72, genes that cause ALS are rarely found to cause FTD and vice versa. To investigate this further, we have sequenced the ALS gene UBQLN2 in our FTD cohort and have found a single putative mutation. This further supports the concept that ALS genes are a rare...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis

Share to Autophagy-Related Proteins

Share to Cell Cycle Proteins

Share to Cohort Studies

Share to Frontotemporal Lobar Degeneration

Share to Ubiquitins

Source

Identifiers

PMID: 25179229
DOI: 10.1016/j.neurobiolaging.2014.08.002

Genes

UBQLN2

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 variant of unknown significance in frontotemporal lobar degeneration.PMID 25179229Read ↗

Two new cases with the UBQLN2 gene mutation in Han Chinese.Semantic proximity Read ↗

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

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

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.Semantic proximity Read ↗

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.Semantic proximity Read ↗

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.Semantic proximity Read ↗

[Association between rare UBQLN2 variants and amyotrophic lateral sclerosis in Chinese population].Semantic proximity Read ↗

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

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

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