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

• 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 PeerReviewed
• Language: English
• Published: MDPI 2022
• Subjects: Neurosciences not elsewhere classified; Paediatrics
• Online Access: https://repository.ugm.ac.id/283799/1/genes-13-00205.pdf; https://repository.ugm.ac.id/283799/; https://www.scopus.com/
• Institution: Universitas Gadjah Mada

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...