The survival motor neuron (SMN) protein in spinal muscular atrophy

Giorgio Battaglia

Research output: Contribution to journalArticlepeer-review


Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease characterized by motor neuron degeneration. The recently identified survival motor neuron (SMN) gene is the essential gene responsible for the SMA phenotype. The SMN protein is a complex molecule with several proposed functions, including a key role in pre-mRNAs maturation and splicing, which however do not fully explain the selective motor neuron death typical of SMA. Although widely distributed in neural and non-neural tissues, SMN is however highly expressed in motor neurons during ontogenesis to adulthood, indicating that motor neurons are strictly SMN-dependent for their function and survival from early phases of development to mature stages. Studies on the subcellular localization, protein isoforms and from animal models are likely to shed further light on the functional role of the protein, and to help defining appropriate therapeutic approaches for SMA patients.

Original languageEnglish
Pages (from-to)61-70
Number of pages10
JournalNeuroscience Research Communications
Issue number2
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'The survival motor neuron (SMN) protein in spinal muscular atrophy'. Together they form a unique fingerprint.

Cite this