Results 301 to 310 of about 342,419 (394)

PRDX5 Regulates Mitochondrial Function and Nuclear Spreading in Myogenesis and Acts With PRDX3 to Delay Muscle Aging

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Skeletal muscle aging is associated with oxidative stress and mitochondrial dysfunction. Peroxiredoxins (PRDXs), particularly PRDX3 and PRDX5, are antioxidant enzymes that are uniquely localized to mitochondria. While PRDX3 has been reported to play a role in maintaining mitochondrial function in muscle, the specific function of ...
Joonho Suh, Je‐Hyun Eom, Jongmin Baik, Wonn Shim, Max A. Tischfield, Hyun Ae Woo, Yun‐Sil Lee   +6 more
wiley   +1 more source

Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies. [PDF]

Sci Rep
Dong Y, Iammarino M, Liu J, Codling J, Fagert J, Mirshekari M, Lowes L, Zhang P, Noh HY.   +8 more
europepmc   +1 more source

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy

Acta Physiologica, Volume 241, Issue 12, December 2025.
ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec, Yeranuhi Hovhannisyan, Gaëlle Revet, Sila Polat, Medhi Hassani, Nathalie Mougenot, Inès Barthelemy, Stephane Blot, Caroline Cieniewski‐Bernard, Arnaud Ferry, Ekaterini Kordeli, Zhenlin Li, Onnik Agbulut   +12 more
wiley   +1 more source

Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. [PDF]

J Neurol Neurosurg Psychiatry
Leone E, Pandyan A, Rogers A, Kulshrestha R, Hill J, Philp F.   +5 more
europepmc   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Transposable elements and their involvement in several human muscular dystrophies [PDF]

, 2014
Universitat Autònoma de Barcelona. Facultat de Biociències, Velasco Galilea, María   +1 more
core  

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort. [PDF]

J Neuromuscul Dis
Baskar D, Preethish-Kumar V, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Girija MS, Nandeesh BN, Arunachal G, Nalini A.   +10 more
europepmc   +1 more source

From Earth to orbit: How to preserve muscle health in space and bed rest

Experimental Physiology, EarlyView.
Antonios Matsakas, Colleen Deane
wiley   +1 more source

Aryl Hydrocarbon Receptor in Health and Disease

MedComm, Volume 6, Issue 11, November 2025.
Based on the structure and ligands of AhR, this review introduces the AhR‐related signaling pathways and their roles in health and diseases. Agonists and antagonists of AhR as well as new strategies for treatment using the microbial–AhR axis are summarized. A prospect was made for the future use of AhR as a therapeutic target.
Haonan Li, Yufeng Fan, Jizheng Liu, Shumin Dong, Bin Wen, Yunfei Zhang, Xiaocui Wang, Xuemei Duan, Ying Hu, Ze Yan, Huifeng Shang, Yukai Jing   +11 more
wiley   +1 more source