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

doi:10.1016/j.gim.2024.101097

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2024

Accogli Andrea, Park Young N, Lenk Guy M, 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

Abstract excerpt

PURPOSE: Pathogenic variants of FIG4 generate enlarged lysosomes and neurological and developmental disorders. To identify additional genes regulating lysosomal volume, we carried out a genome-wide activation screen to detect suppression of enlarged lysosomes in FIG4-/- cells. METHODS: The CRISPR-a gene activation screen utilized sgRNAs from the promoters of protein-coding genes. Fluorescence-activated cell...

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PMID: 38334070
DOI: 10.1016/j.gim.2024.101097

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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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