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

Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.

Proceedings of the National Academy of Sciences of the United States of America - 2 Jun 2020

Cao Mian, Park Daehun, Wu Yumei, De Camilli Pietro

Abstract excerpt

Numerous genes whose mutations cause, or increase the risk of, Parkinson's disease (PD) have been identified. An inactivating mutation (R258Q) in the Sac inositol phosphatase domain of synaptojanin 1 (SJ1/PARK20), a phosphoinositide phosphatase implicated in synaptic vesicle recycling, results in PD. The gene encoding Sac2/INPP5F, another Sac domain-containing protein, is located within a PD risk locus identified...

Read the complete abstract on PubMed

Topics

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

Share to Dopamine
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Inbred C57BL

Share to Mice, Knockout

Share to Parkinson Disease

Share to Phenotype

Share to Synapses

Source

Open in PubMed Open full text

Identifiers

PMID: 32424101
DOI: 10.1073/pnas.2004335117
PMCID: PMC7275725

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

Absence of Sac2/INPP5F enhances the phenotype of a Parkinson's disease mutation of synaptojanin 1.PMID 32424101Read ↗

Absence of Sac2/INPP5F enhances the phenotype of a Parkinson’s disease mutation of synaptojanin 1Semantic proximity Read ↗

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

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

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

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.Semantic proximity Read ↗

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

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

An Early Onset Progressive Motor Neuron Disorder inScyl1-Deficient Mice Is Associated with Mislocalization of TDP-43Semantic proximity Read ↗

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Semantic proximity Read ↗

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.Semantic proximity Read ↗

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