Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

doi:10.1016/j.ajhg.2023.03.001

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Article

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

American journal of human genetics - 6 Apr 2023

Frost F Graeme, Morimoto Marie, Sharma Prashant, Ruaud Lyse, Belnap Newell, Calame Daniel G, Uchiyama Yuri, Matsumoto Naomichi, Oud Machteld M, Ferreira Elise A, Narayanan Vinodh, Rangasamy Sampath, Huentelman Matt, Emrick Lisa T, Sato-Shirai Ikuko, Kumada Satoko, Wolf Nicole I, Steinbach Peter J, Huang Yan, Pusey Barbara N, Passemard Sandrine, Levy Jonathan, Drunat Séverine, Vincent Marie, Guet Agnès, Agolini Emanuele, Novelli Antonio, Digilio Maria Cristina, Rosenfeld Jill A, Murphy Jennifer L, Lupski James R, Vezina Gilbert, Macnamara Ellen F, Adams David R, Acosta Maria T, Tifft Cynthia J, Gahl William A, Malicdan May Christine V

Abstract excerpt

The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nuclear ribonucleoproteins (snRNPs) that consist of small nuclear RNAs (snRNAs) and protein subunits. snRNA gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36965478
DOI: 10.1016/j.ajhg.2023.03.001
PMCID: PMC10119142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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