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

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 <i>survival motor neuron 1</i> (<i>SMN1</i>) gene deletion, while ~5% carry an intragenic...

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Bibliographic Details
Main Authors: Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Mawaddah Ar Rochmah, Toru Takarada, Atsuko Takeuchi, Tomokazu Kimizu, Kentaro Okamoto, Toshio Saito, Hiroyuki Awano, Yasuhiro Takeshima, Masakazu Shinohara
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
SMA
mutated SMN1 protein
stability
oligomerization
Online Access:https://www.mdpi.com/2073-4425/13/2/205

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https://www.mdpi.com/2073-4425/13/2/205

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