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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 23 Apr 2024

Mohd Rafiq Nisha, Fujise Kenshiro, Rosenfeld Martin Shaun, Xu Peng, De Camilli Pietro

Abstract excerpt

Synaptojanin-1 (SJ1) is a major neuronal-enriched PI(4, 5)P2 4- and 5-phosphatase implicated in the shedding of endocytic factors during endocytosis. A mutation (R258Q) that impairs selectively its 4-phosphatase activity causes Parkinsonism in humans and neurological defects in mice (SJ1RQKI mice). Studies of these mice showed, besides an abnormal assembly state of endocytic factors at synapses, the presence of...

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Identifiers

PMID: 38635628
DOI: 10.1073/pnas.2318943121
PMCID: PMC11047088

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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.

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