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Article

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.

Human molecular genetics - 22 Mar 2000

Frugier T, Tiziano F D, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Le Meur M, Melki J

Abstract excerpt

Deletion of the murine survival of motor neuron gene (SMN) exon 7, the most frequent mutation found in spinal muscular atrophy (SMA) patients, directed to neurons but not to skeletal muscle, enabled generation of a mouse model of SMA providing evidence that motor neurons are the primary target of the gene defect. Moreover, the mutated SMN protein (SMNDeltaC15) is dramatically reduced in the motor neuron nuclei...

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Source

Identifiers

PMID: 10749994
DOI: 10.1093/hmg/9.5.849

Provenance

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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