Article

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

2023-10-13

Abstract excerpt

<h4>ABSTRACT</h4> Synaptojanin-1 (SJ1) is a major neuronal-enriched PI(4,5)P 2 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 (SJ1 RQ KI mice). Studies of these mice showed, besides an abnormal assembly state of endocytic factors at synap...

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Literature Corpus work: 92be7185-b4a2-5092-8858-93564714bcd4
DOI: 10.1101/2023.10.12.562142

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