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

Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.

Human molecular genetics - 15 Mar 2015

Osaka Mayuko, Ito Daisuke, Yagi Takuya, Nihei Yoshihiro, Suzuki Norihiro

Abstract excerpt

A mutation in the ubiquilin 2 gene (UBQLN2) was recently identified as a cause of X-linked amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) and a major component of the inclusion bodies commonly found with a wide variety of ALS. ALS-linked mutations in UBQLN2 are clustered in a unique proline-X-X repeat region, reportedly leading to impairment of the ubiquitin proteasome system. However, the...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Autophagy-Related Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to Endosomes

Share to Frontotemporal Dementia

Share to Inclusion Bodies

Share to Transcription Factor TFIIIA

Share to Ubiquitins

Source

Identifiers

PMID: 25398946
DOI: 10.1093/hmg/ddu575

Genes

UBQLN2
OPTN
ULK1

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

Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.PMID 25398946Read ↗

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2.Semantic proximity Read ↗

UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.Semantic proximity Read ↗

UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD.Semantic proximity Read ↗

Key role of UBQLN2 in pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementiaSemantic proximity Read ↗

Wild-type and pathogenic forms of ubiquilin 2 differentially modulate components of the autophagy-lysosome pathways.Semantic proximity Read ↗

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

Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral SclerosisSemantic proximity Read ↗

ALS-Related Mutant SOD1 Aggregates Interfere with Mitophagy by Sequestering the Autophagy Receptor Optineurin.Semantic proximity Read ↗

Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and CancerSemantic proximity Read ↗

Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation.Semantic proximity Read ↗

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.Semantic proximity Read ↗

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

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