Histone deacetylases: Molecular mechanisms and therapeutic implications for muscular dystrophies

M Sandonà, G Cavioli, A Renzini, A Cedola… - International Journal of …, 2023 - mdpi.com
Histone deacetylases (HDACs) are enzymes that regulate the deacetylation of numerous
histone and non-histone proteins, thereby affecting a wide range of cellular processes …

The dystrophin node as integrator of cytoskeletal organization, lateral force transmission, fiber stability and cellular signaling in skeletal muscle

P Dowling, S Gargan, S Murphy, M Zweyer, H Sabir… - Proteomes, 2021 - mdpi.com
The systematic bioanalytical characterization of the protein product of the DMD gene, which
is defective in the pediatric disorder Duchenne muscular dystrophy, led to the discovery of …

Effects of an acute bout of exercise on circulating extracellular vesicles: tissue-, sex-, and BMI-related differences

AE Rigamonti, V Bollati, L Pergoli, S Iodice… - International Journal of …, 2020 - nature.com
Background Exercise is recognized to evoke multisystemic adaptations that, particularly in
obese subjects, reduce body weight, improve glucometabolic control, counteract …

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

J Alonso-Perez, L González-Quereda, L Bello… - Brain, 2020 - academic.oup.com
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …

Absolute expressions of hypoxia-inducible factor-1 alpha (HIF1A) transcript and the associated genes in chicken skeletal muscle with white striping and wooden …

Y Malila, K Thanatsang, S Arayamethakorn… - PLoS …, 2019 - journals.plos.org
Development of white striping (WS) and wooden breast (WB) in broiler breast meat have
been linked to hypoxia, but their etiologies are not fully understood. This study aimed at …

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

C Li, J Wilborn, S Pittman, J Daw… - The Journal of …, 2023 - Am Soc Clin Investig
Genetic testing is essential for patients with a suspected hereditary myopathy. More than
50% of patients clinically diagnosed with a myopathy carry a variant of unknown significance …

The sockeye salmon genome, transcriptome, and analyses identifying population defining regions of the genome

KA Christensen, EB Rondeau, DR Minkley… - PLoS …, 2020 - journals.plos.org
Sockeye salmon (Oncorhynchus nerka) is a commercially and culturally important species to
the people that live along the northern Pacific Ocean coast. There are two main sockeye …

Nintedanib reduces muscle fibrosis and improves muscle function of the alpha-sarcoglycan-deficient mice

J Alonso-Pérez, A Carrasco-Rozas, M Borrell-Pages… - Biomedicines, 2022 - mdpi.com
Sarcoglycanopathies are a group of recessive limb-girdle muscular dystrophies,
characterized by progressive muscle weakness. Sarcoglycan deficiency produces instability …

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

J Alonso-Pérez, L González-Quereda, C Bruno… - Brain, 2022 - academic.oup.com
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular
dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by …

How cells sense and integrate information from different sources

MF Ullo, LB Case - WIREs Mechanisms of Disease, 2023 - Wiley Online Library
Cell signaling is a fundamental cellular process that enables cells to sense and respond to
information in their surroundings. At the molecular level, signaling is primarily carried out by …