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

Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.

Neurobiology of aging - 1 Oct 2020

Gu Xiaojing, Li Chunyu, Chen Yongping, Ou Ruwei, Cao Bei, Wei Qianqian, Hou Yanbing, Zhang Lingyu, Song Wei, Zhao Bi, Wu Ying, Shang Huifang

Abstract excerpt

Homozygous and compound heterozygous mutations in the vacuolar protein sorting 13C (VPS13C) gene can cause autosomal recessive parkinsonism via mitochondrial pathway. The present study aimed to screen the mutations of VPS13C in a cohort of Chinese patients with early-onset Parkinson's disease (EOPD) and further explore its pathogenicity via burden analysis. A total of 669 patients with EOPD were sequenced with...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Genetic Testing

Share to Homozygote

Share to Mitochondria

Share to Parkinsonian Disorders

Share to Proteins

Source

Identifiers

PMID: 32507414
DOI: 10.1016/j.neurobiolaging.2020.05.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease.PMID 32507414Read ↗

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.Semantic proximity Read ↗

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.Semantic proximity Read ↗

Analysis of common and rare VPS13C variants in late-onset Parkinson diseaseSemantic proximity Read ↗

Analysis of common and rare <i>VPS13C</i> variants in late onset Parkinson diseaseSemantic proximity Read ↗

Association between VPS13C rs2414739 polymorphism and Parkinson's disease risk: A meta-analysis.Semantic proximity Read ↗

Mutation analysis of seven SLC family transporters for early-onset Parkinson's disease in Chinese population.Semantic proximity Read ↗

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.Semantic proximity Read ↗

Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseasesSemantic proximity Read ↗

Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.Semantic proximity Read ↗

Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc).Semantic proximity Read ↗

Two novel variants of VPS13C gene related Parkinsonism: A case report and literature review.Semantic proximity Read ↗

Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.Semantic proximity Read ↗

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