Results 281 to 290 of about 306,770 (339)

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Causal relationship between gut microbiota and muscular dystrophy: A Mendelian randomization analysis. [PDF]

Medicine (Baltimore)
Jin X, Jin R, Xia W, Pan Z, Zhu D.
europepmc   +1 more source

Limb girdle muscular dystrophy

Candace Moore
openalex   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, Volume 46, Issue 2, Page 475-512, March 2026.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Inhibition of TRPC3-Nox2 Complex Formation Ameliorates Skeletal Muscle Atrophy. [PDF]

Antioxidants (Basel)
Kato Y, Wu D, Ito T, Atef Y, Ayukawa K, Mi X, Nishiyama K, Nishimura A, Nishida M.   +8 more
europepmc   +1 more source

Modeling, Evaluation, and In Vivo Estimation of Muscle Cell Diameter With the Random Permeable Barrier Model: Correlation With Subject Characteristics and Isometric Torque

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
We evaluated the random permeable barrier model (RPBM) through simulations, model fitting, and in vivo analysis of 100 healthy adults. Simulations showed that stable estimates of muscle cell diameter and membrane permeability require constraining τ and fixing D0 at ~0.9 of axial diffusivity at long diffusion times.
Martijn Froeling, Roosmarijn Brenninkmeijer, Danny R. van der Woude, Bart Bartels, Linda Heskamp   +4 more
wiley   +1 more source

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 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

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source