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Article

Mitochondrial Dysfunction in Spinal Muscular Atrophy

17 Sept 2022

Abstract excerpt

gene, globally affecting ~8-14 newborns per 100,000. The severity of the disease depends on the residual levels of functional survival of motor neuron protein, SMN. SMN is a ubiquitously expressed RNA binding protein involved in a plethora of cellular processes. In this review, we discuss the effects of SMN loss on mitochondrial functions in the neuronal and muscular systems that are the most affected in patients...

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PMID: 36142791
DOI: 10.3390/ijms231810878

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