E Mercuri, CG Bönnemann, F Muntoni - The Lancet, 2019 - thelancet.com
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …
The ubiquitin-proteasome and autophagy-lysosome pathways are the two major routes for protein and organelle clearance. In skeletal muscle, both systems are under FoxO regulation …
Mitochondria are being recognized as key factors in many unexpected areas of biomedical science. In addition to their well-known roles in oxidative phosphorylation and metabolism, it …
WJH Koopman, PHGM Willems… - New England Journal …, 2012 - Mass Medical Soc
Monogenic Mitochondrial Disorders | New England Journal of Medicine Skip to main content The New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …
AS Rosenberg, M Puig, K Nagaraju… - Science translational …, 2015 - science.org
Immunological and inflammatory processes downstream of dystrophin deficiency as well as metabolic abnormalities, defective autophagy, and loss of regenerative capacity all …
Cells are subjected to endogenous [eg, reactive oxygen species (ROS), replication stress] and exogenous insults (eg, UV light, ionizing radiation, and certain chemicals), which can …
I Szabo, M Zoratti - Physiological reviews, 2014 - journals.physiology.org
The field of mitochondrial ion channels has recently seen substantial progress, including the molecular identification of some of the channels. An integrative approach using genetics …
P Grumati, L Coletto, P Sabatelli, M Cescon… - Nature medicine, 2010 - nature.com
Autophagy is crucial in the turnover of cell components, and clearance of damaged organelles by the autophagic-lysosomal pathway is essential for tissue homeostasis …
Mitochondrial permeability transition, as the consequence of opening of a mitochondrial permeability transition pore (mPTP), is a cellular catastrophe. Initiating bioenergetic collapse …