Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease

CJJ Yeo, BT Darras - Pediatric neurology, 2020 - Elsevier
Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated
patients with the most severe form, spinal muscular atrophy type 1, die early with infantile …

Spinal muscular atrophy: more than a disease of motor neurons?

LA Nash, JK Burns, J Warman Chardon… - Current molecular …, 2016 - ingentaconnect.com
Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative
disease resulting in infant mortality. SMA is caused by genetic deletion or mutation in the …

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

MO Deguise, G Baranello, C Mastella… - Annals of clinical …, 2019 - Wiley Online Library
Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to
paralysis and subsequent death in young children. Initially considered a motor neuron …

[HTML][HTML] Recent advances in understanding the role of FOXO3

RJ Stefanetti, S Voisin, A Russell, S Lamon - F1000Research, 2018 - ncbi.nlm.nih.gov
The forkhead box O3 (FOXO3, or FKHRL1) protein is a member of the FOXO subclass of
transcription factors. FOXO proteins were originally identified as regulators of insulin-related …

[HTML][HTML] Metabolic dysfunction in spinal muscular atrophy

MO Deguise, L Chehade, R Kothary - International Journal of Molecular …, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to
paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide …

Skeletal muscle atrogenes: From rodent models to human pathologies

D Taillandier, C Polge - Biochimie, 2019 - Elsevier
Skeletal muscle atrophy is a common side effect of most human diseases. Muscle loss is not
only detrimental for the quality of life but it also dramatically impairs physiological processes …

[HTML][HTML] Metabolic and nutritional issues associated with spinal muscular atrophy

YJ Li, TH Chen, YZ Wu, YH Tseng - Nutrients, 2020 - mdpi.com
Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a
neurodegenerative disease characterized by the selective loss of motor neurons in the …

Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice

MO Deguise, Y De Repentigny, E McFall… - Human Molecular …, 2017 - academic.oup.com
Spinal muscular atrophy (SMA) has long been solely considered a neurodegenerative
disorder. However, recent work has highlighted defects in many other cell types that could …

[HTML][HTML] Revisiting the role of mitochondria in spinal muscular atrophy

R James, H Chaytow, LM Ledahawsky… - Cellular and Molecular …, 2021 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable
clinical severity that is caused by mutations in the survival motor neuron 1 (SMN1) gene …

[HTML][HTML] Interventions targeting glucocorticoid-Krüppel-like factor 15-branched-chain amino acid signaling improve disease phenotypes in spinal muscular atrophy …

LM Walter, MO Deguise, KE Meijboom, CA Betts… - …, 2018 - thelancet.com
The circadian glucocorticoid-Krüppel-like factor 15-branched-chain amino acid (GC-KLF15-
BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide …