Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.

doi:10.1172/jci.insight.192835

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Article

Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.

JCI insight - 22 Oct 2025

Genovese Federica, Huang Yu-Ting, Motyl Anna Al, Paganin Martina, Sharma Gaurav, Signoria Ilaria, Donzel Deborah, Lai Nicole Ch, Pronot Marie, Kline Rachel A, Chaytow Helena, Morris Kimberley J, Faller Kiterie Me, Wishart Thomas M, Groen Ewout Jn, Cousin Michael A, Viero Gabriella, Gillingwater Thomas H

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of survival motor neuron (SMN) protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms. However, emerging phenotypes, including neurodevelopmental comorbidities, are being reported in some treated patients with SMA, indicative of alterations in...

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Topics

Animals
Muscular Atrophy, Spinal
Mice
Cilia
Disease Models, Animal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Female

Pregnancy

Humans

Protein Biosynthesis

Survival of Motor Neuron 1 Protein

Motor Neurons

Wnt Signaling Pathway

Cell Proliferation

Male

Proteomics

Source

Open in PubMed Open full text

Identifiers

PMID: 40924492
DOI: 10.1172/jci.insight.192835
PMCID: PMC12581668

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