[HTML][HTML] Mitochondrial dysfunction: roles in skeletal muscle atrophy

X Chen, Y Ji, R Liu, X Zhu, K Wang, X Yang… - Journal of Translational …, 2023 - Springer
Mitochondria play important roles in maintaining cellular homeostasis and skeletal muscle
health, and damage to mitochondria can lead to a series of pathophysiological changes …

[HTML][HTML] R-loop mediated DNA damage and impaired DNA repair in spinal muscular atrophy

J Cuartas, L Gangwani - Frontiers in cellular neuroscience, 2022 - frontiersin.org
Defects in DNA repair pathways are a major cause of DNA damage accumulation leading to
genomic instability and neurodegeneration. Efficient DNA damage repair is critical to …

[HTML][HTML] WNT-β catenin signaling as a potential therapeutic target for neurodegenerative diseases: current status and future perspective

K Ramakrishna, LV Nalla, D Naresh, K Venkateswarlu… - Diseases, 2023 - mdpi.com
Wnt/β-catenin (WβC) signaling pathway is an important signaling pathway for the
maintenance of cellular homeostasis from the embryonic developmental stages to …

[HTML][HTML] IGF-1 signaling regulates mitochondrial remodeling during myogenic differentiation

X Guan, Q Yan, D Wang, G Du, J Zhou - Nutrients, 2022 - mdpi.com
Skeletal muscle is essential for locomotion, metabolism, and protein homeostasis in the
body. Mitochondria have been considered as a key target to regulate metabolic switch …

[HTML][HTML] 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 …

Global trends in research of mitochondrial biogenesis over past 20 years: a bibliometric analysis

L Song, J Liang, W Wang, J Gao, H Chai… - Oxidative Medicine …, 2023 - Wiley Online Library
Background. Mitochondrial biogenesis‐related studies have increased rapidly within the last
20 years, whereas there has been no bibliometric analysis on this topic to reveal relevant …

[HTML][HTML] Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation

T Grass, Z Dokuzluoglu, F Buchner, I Rosignol… - Cell Reports …, 2024 - cell.com
Whether neurodevelopmental defects underlie postnatal neuronal death in
neurodegeneration is an intriguing hypothesis only recently explored. Here, we focus on …

[HTML][HTML] How inflammation pathways contribute to cell death in neuro-muscular disorders

S Salucci, A Bartoletti Stella, M Battistelli, S Burattini… - Biomolecules, 2021 - mdpi.com
Neuro-muscular disorders include a variety of diseases induced by genetic mutations
resulting in muscle weakness and waste, swallowing and breathing difficulties. However …

[HTML][HTML] Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy

R James, KME Faller, EJN Groen, B Wirth… - Communications …, 2024 - nature.com
Background Spinal muscular atrophy (SMA) is an autosomal recessive childhood-onset
neuromuscular disease with a carrier frequency of~ 1: 50. Mitochondrial abnormalities are …

[HTML][HTML] Physiological Features of the Neural Stem Cells Obtained from an Animal Model of Spinal Muscular Atrophy and Their Response to Antioxidant Curcumin

R Adami, M Pezzotta, F Cadile, B Cuniolo… - International Journal of …, 2024 - mdpi.com
The most prevalent rare genetic disease affecting young individuals is spinal muscular
atrophy (SMA), which is caused by a loss-of-function mutation in the telomeric gene survival …