Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA

Abstract Spinal muscular atrophy (SMA) results from SMN1 gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein. Nusinersen, risdiplam, and onasemnogene abeparvovec are revolutionary treatments but should ideally be implemented before clinical sympto...

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Principais autores:	Brett W Stringer, Yougang Zhang, Afsaneh Taghipour-Sheshdeh, Shuxiang Goh, Heike Kölbel, Michelle A Farrar, Brunhilde Wirth, Jean Giacomotto
Formato:	Artigo
Idioma:	Inglês
Publicado:	Springer Nature 2025-12-01
Series:	EMBO Molecular Medicine
Assuntos:	Motor Neuron Disease Diagnosis Functional Test Precision Medicine Hypomorphic Variants VUS Resolution
Acceso en liña:	https://doi.org/10.1038/s44321-025-00355-8
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