Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease
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 …
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 …
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 …
paralysis and subsequent death in young children. Initially considered a motor neuron …
[HTML][HTML] Recent advances in understanding the role of FOXO3
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
BCAA) signaling pathway is a key regulatory axis in muscle, whose imbalance has wide …