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

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.

Parkinsonism & related disorders - 1 Mar 2013

Köroğlu Çiğdem, Baysal Leyla, Cetinkaya Murat, Karasoy Hatice, Tolun Aslıhan

Abstract excerpt

Familial parkinson's disease is both clinically and genetically heterogeneous. By mapping the disease locus with a lod score of 5.13 to a < 3.5 Mbp region at 1p31.3 in a consanguineous family and subsequent exome sequencing analysis, we identified homozygous truncating mutation p.Q734X in DNAJC6. Four members of the family were afflicted with juvenile parkinsonism that presented with mental retardation, pyramidal...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Consanguinity
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to HSP40 Heat-Shock Proteins

Share to Parkinsonian Disorders

Share to Pedigree

Share to Young Adult

Source

Identifiers

PMID: 23211418
DOI: 10.1016/j.parkreldis.2012.11.006

Genes

DNAJC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.PMID 23211418Read ↗

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.Semantic proximity Read ↗

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.Semantic proximity Read ↗

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.Semantic proximity Read ↗

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.Semantic proximity Read ↗

Clinical Variability of SYNJ1-Associated Early-Onset ParkinsonismSemantic proximity Read ↗

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.Semantic proximity Read ↗

DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population.Semantic proximity Read ↗

PARK6 is a common cause of familial parkinsonism.Semantic proximity Read ↗

Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.Semantic proximity Read ↗

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.Semantic proximity Read ↗

Park6‐linked parkinsonism occurs in several european familiesSemantic proximity Read ↗

PARK6-linked parkinsonism occurs in several European families.Semantic proximity Read ↗

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