AMPK is mitochondrial medicine for neuromuscular disorders

AI Mikhail, SY Ng, SR Mattina, V Ljubicic - Trends in Molecular Medicine, 2023 - cell.com
Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …

[HTML][HTML] Mitochondria in skeletal system-related diseases

L Pei, Z Yao, D Liang, K Yang, L Tao - Biomedicine & Pharmacotherapy, 2024 - Elsevier
Skeletal system-related diseases, such as osteoporosis, arthritis, osteosarcoma and
sarcopenia, are becoming major public health concerns. These diseases are characterized …

Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy

DMK Leow, YK Ng, LC Wang, HWL Koh, T Zhao… - The Journal of Clinical …, 2024 - jci.org
Spinal muscular atrophy (SMA) is typically characterized as a motor neuron disease, but
extraneuronal phenotypes are present in almost every organ in severely affected patients …

Diaphragm Fatigue in SMNΔ7 Mice and Its Molecular Determinants: An Underestimated Issue

F Cadile, D Recchia, M Ansaldo, P Rossi… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a genetic disorder characterized by the loss of spinal
motor neurons leading to muscle weakness and respiratory failure. Mitochondrial …

[HTML][HTML] Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation

FC Grandi, S Astord, S Pezet, E Gidaja… - JCI …, 2024 - pmc.ncbi.nlm.nih.gov
Spinal muscular atrophy (SMA) is a recessive developmental disorder caused by the genetic
loss or mutation of the gene SMN1 (survival of motor neuron 1). SMA is characterized by …

[HTML][HTML] Ubiquitination Insight from Spinal Muscular Atrophy—From Pathogenesis to Therapy: A Muscle Perspective

A Bolado-Carrancio, O Tapia… - International Journal of …, 2024 - mdpi.com
Spinal muscular atrophy (SMA) is one of the most frequent causes of death in childhood.
The disease's molecular basis is deletion or mutations in the SMN1 gene, which produces …

Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches

S Rashid, M Dimitriadi - Frontiers in Cellular Neuroscience, 2024 - frontiersin.org
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by the
depletion of the ubiquitously expressed survival motor neuron (SMN) protein. While the …

[HTML][HTML] SMN deficiency induces an early non-atrophic myopathy with alterations in the contractile and excitatory coupling machinery of skeletal myofibers in the SMN …

MT Berciano, A Gatius, A Puente-Bedia… - International Journal of …, 2024 - mdpi.com
Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed
survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the …

Comparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models

SH Kumar, K Brandt, P Claus, K Jung - BMC Medical Genomics, 2024 - Springer
Spinal Muscular Atrophy (SMA), a neuromuscular disorder that leads to weakness in the
muscles due to degeneration of motor neurons. Mutations in the survival motor neuron 1 …

Secondary mitochondrial dysfunction across the spectrum of hereditary and acquired muscle disorders

G Mak, M Tarnopolsky, JQ Lu - Mitochondrion, 2024 - Elsevier
Mitochondria form a dynamic network within skeletal muscle. This network is not only
responsible for producing adenine triphosphate through oxidative phosphorylation, but also …