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

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Aug 2014

Kim Hee-Jung, Kwon Min-Jung, Choi Won-Jun, Oh Ki-Wook, Oh Seong-Il, Ki Chang-Seok, Kim Seung Hyun

Abstract excerpt

Mutations in the UBQLN2 and SIGMAR1 genes were recently identified in X-linked dominant amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS and/or FTD) and FTD and/or motor neuron disease, respectively. Subsequent studies, however, found that UBQLN2 mutations were rare, and the pathogenicity of SIGMAR1 mutation in FTD and/or motor neuron disease was controversial. In the present study, we analyzed...

Read the complete abstract on PubMed

Topics

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

Share to 3' Untranslated Regions
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis

Share to Asian People

Share to Autophagy-Related Proteins

Share to Cell Cycle Proteins

Share to Cohort Studies

Share to Ubiquitins

Source

Identifiers

PMID: 24684794
DOI: 10.1016/j.neurobiolaging.2014.03.001

Genes

SIGMAR1
UBQLN2

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

Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosis.PMID 24684794Read ↗

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

In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.Semantic proximity Read ↗

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Semantic proximity Read ↗

SIGMAR1 gene-related neuromuscular disorders - what do we know?Semantic proximity Read ↗

Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohortSemantic proximity Read ↗

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementiaSemantic proximity Read ↗

The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.Semantic proximity Read ↗

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.Semantic proximity Read ↗

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.Semantic proximity Read ↗

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.Semantic proximity Read ↗

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