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Article

Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload.

The American journal of pathology - 1 Nov 2004

Vitte Jérémie M, Davoult Bénédicte, Roblot Natacha, Mayer Michèle, Joshi Vandana, Courageot Sabrina, Tronche François, Vadrot Jacqueline, Moreau Marie Helene, Kemeny François, Melki Judith

Abstract excerpt

Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron 1 gene (SMN1). SMN is involved in various processes including the formation of the spliceosome, pre-mRNA splicing and transcription. To know whether SMN has an essential role in all mammalian cell types or an as yet unknown specific function in the neuromuscular system, deletion...

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Source

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Identifiers

PMID: 15509541
DOI: 10.1016/S0002-9440(10)63428-1
PMCID: PMC1618680

Genes

SMN1

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.

Related research

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Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload.PMID 15509541Read ↗

Impact of liver-specific survival motor neuron (SMN) depletion on central nervous system and peripheral tissue pathologySemantic proximity Read ↗

Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular DystrophySemantic proximity Read ↗

SMN deficiency disrupts hepatic mitochondrial iron homeostasis and NRF2-dependent redox control in spinal muscular atrophySemantic proximity Read ↗

Mitochondrial Dysfunction in Spinal Muscular AtrophySemantic proximity Read ↗

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.Semantic proximity Read ↗

Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasisSemantic proximity Read ↗

SMN deficiency induces an early non-atrophic myopathy with alterations in the contractile and excitatory coupling machinery of skeletal myofibers in the SMNΔ7 mouse model of spinal muscular atrophySemantic proximity Read ↗

The SMN Complex at the Crossroad between RNA Metabolism and NeurodegenerationSemantic proximity Read ↗

Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.Semantic proximity Read ↗

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular AtrophySemantic proximity Read ↗

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular AtrophySemantic proximity Read ↗

The role of the SMN gene in proximal spinal muscular atrophy.Semantic proximity Read ↗

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