AMPK is mitochondrial medicine for neuromuscular disorders
Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
responsible for producing adenine triphosphate through oxidative phosphorylation, but also …