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 survival motor neuron 1 (SMN1) gene deletion, while ~5 carry an intragenic SMN1 mutation. Here, we investigated the...

Full description

Saved in:
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 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/
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Universitas Gadjah Mada
Language: English

Internet

https://repository.ugm.ac.id/283799/1/genes-13-00205.pdf
https://repository.ugm.ac.id/283799/
https://www.scopus.com/

Similar Items