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

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.

PloS one - 1 Jan 2015

Long Zhe, Chen Zhao, Wang Chunrong, Huang Fengzhen, Peng Huirong, Hou Xuan, Ding Dongxue, Ye Wei, Wang Junling, Pan Qian, Li Jiada, Xia Kun, Tang Beisha, Ashizawa Tetsuo, Jiang Hong

Abstract excerpt

Spinocerebellar ataxia type 3 (SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The number of repeats is inversely associated with age at disease onset (AO) and is significantly associated with disease severity; however, the degree of CAG...

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 Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asian People

Share to Ataxin-3

Share to Gene Frequency

Share to Machado-Joseph Disease

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 25689313
DOI: 10.1371/journal.pone.0117488
PMCID: PMC4331546

Genes

ATXN3

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

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.PMID 25689313Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSemantic proximity Read ↗

Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.Semantic proximity Read ↗

APOE ε2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population.Semantic proximity Read ↗

Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).Semantic proximity Read ↗

The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful.Semantic proximity Read ↗

Alteration of methylation status in the ATXN3 gene promoter region is linked to the SCA3/MJD.Semantic proximity Read ↗

Machado Joseph disease: clinical and genetic aspects, and current treatmentSemantic proximity Read ↗

Age is an important independent modifier of SCA3 phenotype severity.Semantic proximity Read ↗

Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.Semantic proximity Read ↗

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph DiseaseSemantic proximity Read ↗

Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.Semantic proximity Read ↗

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