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

Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice

27 Apr 2020

Abstract excerpt

Synaptojanin1 (synj1) is a phosphoinositide phosphatase with dual SAC1 and 5'-phosphatase enzymatic activities in regulating phospholipid signaling. The brain-enriched isoform has been shown to participate in synaptic vesicle (SV) recycling. More recently, recessive human mutations were identified in the two phosphatase domains of SYNJ1, including R258Q, R459P and R839C, which are linked to rare forms of...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Nuclear Receptors and Signaling
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32356558
DOI: 10.1093/hmg/ddaa080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in micePMID 32356558Read ↗

Haploinsufficiency of Parkinsonism Gene <i>SYNJ1</i> Contributes to Dopamine neuron Vulnerability in Aged MiceSemantic proximity Read ↗

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

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

Synaptojanin1 regulates lysosomal functions in ventral midbrain neuronsSemantic proximity Read ↗

Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease.Semantic proximity Read ↗

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

Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model.Semantic proximity Read ↗

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

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

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

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

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

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