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

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

Brain : a journal of neurology - 3 Jun 2024

Abela Lucia, Gianfrancesco Lorita, Tagliatti Erica, Rossignoli Giada, Barwick Katy, Zourray Clara, Reid Kimberley M, Budinger Dimitri, Ng Joanne, Counsell John, Simpson Arlo, Pearson Toni S, Edvardson Simon, Elpeleg Orly, Brodsky Frances M, Lignani Gabriele, Barral Serena, Kurian Manju A

Abstract excerpt

DNAJC6 encodes auxilin, a co-chaperone protein involved in clathrin-mediated endocytosis (CME) at the presynaptic terminal. Biallelic mutations in DNAJC6 cause a complex, early-onset neurodegenerative disorder characterized by rapidly progressive parkinsonism-dystonia in childhood. The disease is commonly associated with additional neurodevelopmental, neurological and neuropsychiatric features. Currently, there...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Dopaminergic Neurons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endocytosis

Share to Genetic Therapy

Share to HSP40 Heat-Shock Proteins

Share to Induced Pluripotent Stem Cells

Share to Parkinsonian Disorders

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 38242634
DOI: 10.1093/brain/awae020
PMCID: PMC11146427

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

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.PMID 38242634Read ↗

Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations.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 ↗

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

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.Semantic proximity Read ↗

Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic NeuronsSemantic proximity Read ↗

Dopamine transporter and synaptic vesicle sorting defects initiate auxilin-linked Parkinson’s diseaseSemantic proximity Read ↗

An isogenic single-cell atlas of familial Parkinson’s disease mutations reveals convergent changes in dopamine neuronsSemantic proximity Read ↗

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.Semantic proximity Read ↗

DNAJC12 in monoamine metabolism, neurodevelopment and neurodegenerationSemantic proximity Read ↗

A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulationSemantic proximity Read ↗

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disordersSemantic proximity Read ↗

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