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

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 t...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872419/ https://www.ncbi.nlm.nih.gov/pubmed/35205250 http://dx.doi.org/10.3390/genes13020205

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