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Article

Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism.

Human molecular genetics - 15 Jun 2016

Gallotta Ivan, Mazzarella Nadia, Donato Alessandra, Esposito Alessandro, Chaplin Justin C, Castro Silvana, Zampi Giuseppina, Battaglia Giorgio S, Hilliard Massimo A, Bazzicalupo Paolo, Di Schiavi Elia

Abstract excerpt

Spinal muscular atrophy is a devastating disease that is characterized by degeneration and death of a specific subclass of motor neurons in the anterior horn of the spinal cord. Although the gene responsible, survival motor neuron 1 (SMN1), was identified 20 years ago, it has proven difficult to investigate its effects in vivo. Consequently, a number of key questions regarding the molecular and cellular functions...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27260405
DOI: 10.1093/hmg/ddw119
PMCID: PMC5181630

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.

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