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

Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.

BioMed research international - 1 Jan 2014

Drouet Valérie, Lesage Suzanne

Abstract excerpt

Synaptojanin 1 (SYNJ1) is a phosphoinositide phosphatase highly expressed in nerve terminals. Its two phosphatase domains dephosphorylate phosphoinositides present in membranes, while its proline-rich domain directs protein-protein interactions with synaptic components, leading to efficient recycling of synaptic vesicles in neurons. Triplication of SYNJ1 in Down's syndrome is responsible for higher level of...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Brain
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Parkinson Disease

Share to Phosphoric Monoester Hydrolases

Share to Polymorphism, Single Nucleotide

Share to Prevalence

Source

Open in PubMed Open full text

Identifiers

PMID: 25302295
DOI: 10.1155/2014/289728
PMCID: PMC4181773

Genes

SYNJ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.PMID 25302295Read ↗

Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in miceSemantic proximity Read ↗

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.Semantic proximity Read ↗

Parkinson’s disease gene, Synaptojanin1, dysregulates the basal maintenance of the dopamine transporterSemantic proximity Read ↗

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.Semantic proximity Read ↗

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.Semantic proximity Read ↗

Parkinson Sac Domain Mutation in Synaptojanin 1 Impairs Clathrin Uncoating at Synapses and Triggers Dystrophic Changes in Dopaminergic Axons.Semantic proximity Read ↗

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.Semantic proximity Read ↗

Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.Semantic proximity Read ↗

Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neuronsSemantic proximity Read ↗

Dysfunction of synaptic endocytic trafficking in Parkinson’s diseaseSemantic proximity Read ↗

Parkinson mutations in <i>DNAJC6</i> cause lipid defects and neurodegeneration that are rescued by Synj1Semantic proximity Read ↗

Dysfunction of Synaptic Vesicle Endocytosis in Parkinson’s DiseaseSemantic proximity Read ↗

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