Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder-Reference-Cited by-同舟云学术

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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Published:2024-05 Issue:5 Volume:26 Page:101097
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Accogli Andrea,Park Young N.,Lenk Guy M.^ORCID,Severino Mariasavina,Scala Marcello,Denecke Jonas,Hempel Maja,Lessel Davor,Kortüm Fanny,Salpietro Vincenzo,de Marco Patrizia,Guerrisi Sara,Torella Annalaura,Nigro Vincenzo,Srour Myriam,Turro Ernest,Labarque Veerle,Freson Kathleen,Piatelli Gianluca,Capra Valeria,Kitzman Jacob O.,Meisler Miriam H.

Funder

National Institute of General Medical Sciences

Publisher

Elsevier BV

Reference27 articles.

1. Roles of PIKfyve in multiple cellular pathways;Rivero-Ríos;Curr Opin Cell Biol,2022

2. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse;Jin;EMBO J,2008

3. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J;Chow;Nature,2007

4. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration;Ferguson;Hum Mol Genet,2012

5. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4;Nicholson;Brain,2011

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PIKFYVE inhibition induces endosome- and lysosome-derived vacuole enlargement via ammonium accumulation;2024-04-20

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