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

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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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI 2022
Subjects:
Neurosciences not elsewhere classified
Paediatrics
Online Access:https://repository.ugm.ac.id/283799/1/genes-13-00205.pdf

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