Article

Mitochondrial Defects in the Respiratory Complex I Contribute to Impaired Translational Initiation via ROS and Energy Homeostasis in SMA Motor Neurons

2020-08-14

Abstract excerpt

<h4>Background: </h4> Spinal muscular atrophy (SMA) is a neuromuscular disease, characterized by loss of lower alpha motor neurons, which leads to proximal muscle weakness. SMA is caused by reduced levels of Survival of Motor Neuron (SMN) due to biallelic deletions or mutations in the SMN1 gene and mainly non-functional SMN2 copy gene. When SMN levels fall under a certain threshold, a plethora of cellular pathways...

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Literature Corpus work: 1cb54e25-0e55-523b-bdd2-e0605c2b165d
DOI: 10.21203/rs.3.rs-49251/v1

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