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Article

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.

Genes - 24 Jan 2022

Niba Emma Tabe Eko, Nishio Hisahide, Wijaya Yogik Onky Silvana, Ar Rochmah Mawaddah, Takarada Toru, Takeuchi Atsuko, Kimizu Tomokazu, Okamoto Kentaro, Saito Toshio, Awano Hiroyuki, Takeshima Yasuhiro, Shinohara Masakazu

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects of lower motor neurons. Approximately 95% of SMA patients are homozygous for survival motor neuron 1 (SMN1) gene deletion, while ~5% carry an intragenic SMN1 mutation. Here, we investigated the stability and oligomerization ability of mutated SMN1 proteins. Plasmids containing wild- and mutant-type SMN1...

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Identifiers

PMID: 35205250
DOI: 10.3390/genes13020205
PMCID: PMC8872419

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