Results 101 to 110 of about 12,377 (209)

Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives

Neurobiology of Disease
Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system.
Claudia Alberti, Federica Rizzo, Alessia Anastasia, Giacomo Comi, Stefania Corti, Elena Abati   +5 more
doaj   +1 more source

Mitochondrial alterations as potential early events in neuromuscular junction remodelling with muscle disuse

Experimental Physiology, EarlyView.
Abstract Physical inactivity impairs neuromuscular health, promoting skeletal muscle atrophy, mitochondrial changes, and neuromuscular junction (NMJ) instability. However, the interplay between mitochondria and NMJ alterations in the context of muscle disuse remains underexplored.
Evgeniia Motanova, Evgenii Lysenko, Fabio Sarto, Mladen Gasparini, Boštjan Šimunic, Rado Pišot, Marco V. Narici   +6 more
wiley   +1 more source

Small Molecule Activators of Mitochondrial Fusion Prevent Congenital Heart Defects Induced by Maternal Diabetes

JACC: Basic to Translational Science
Summary: Most congenital heart defect (CHD) cases are attributed to nongenetic factors; however, the mechanisms underlying nongenetic factor–induced CHDs are elusive.
Guanglei Wang, PhD, Wenhui Lu, PhD, Wei-Bin Shen, PhD, Mariusz Karbowski, PhD, Sunjay Kaushal, MD, PhD, Peixin Yang, PhD   +5 more
doaj   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Mitochondrial oxidative stress, calcium and dynamics in cardiac ischaemia‐reperfusion injury

The Journal of Physiology, EarlyView.
Abstract figure legend Heart attack causes ischaemia–reperfusion injury in cardiomyocytes. Mitochondria generate reactive oxygen species (ROS), leading to oxidative stress. High levels of mitochondrial calcium (Ca2+) activate the mitochondrial permeability transition pore (mPTP), and excess ROS levels can lower the Ca2+ required to activate the mPTP ...
Emily Rozich, Ulas Ozkurede, Shanmugasundaram Pakkiriswami, Ryan Gemilere, Samira M. Azarin, Julia C. Liu   +5 more
wiley   +1 more source

Methods to Study Mitochondrial Metabolism and Homeostasis in Fission Yeast

Yeast, EarlyView.
Ferran Gómez‐Armengol, Elena Hidalgo, Montserrat Vega   +2 more
wiley   +1 more source

Placental mitochondrial metabolic adaptation maintains cellular energy balance in pregnancy complicated by gestational hypoxia

The Journal of Physiology, EarlyView.
Abstract figure legend Placental mitochondrial adaptation to gestational hypoxia. Hypoxic pregnancy in sheep increases placental insulin like growth factor 2 (IGF2) signalling (1), which is associated with a shift in capacity away from β‐oxidation (2) and complex I‐mediated respiration (3), while maintaining total oxidative phosphorylation capacity (4).
Wen Tong, Beth J. Allison, Kirsty L. Brain, Olga V. Patey, Youguo Niu, Kimberley J. Botting, Sage G. Ford, Tess A. Garrud, Peter F. B. Wooding, Qiang Lyu, Lin Zhang, Jin Ma, Alice P. Sowton, Katie A. O'Brien, Tereza Cindrova‐Davies, Hong Wa Yung, Graham J. Burton, Andrew J. Murray, Dino A. Giussani   +18 more
wiley   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Zebrafish mitofusin-2 knockdown: a new model for CMT2A neuropathy? [PDF]

, 2009
Mitofusin 2 (MFN2) is a large dynamin-like GTPase protein, located in the outer membrane of mitochondria and at the surface of the endoplasmic reticulum.
VETTORI, ANDREA, ARGENTON, FRANCESCO, TISO, NATASCIA, MOSTACCIUOLO, MARIA LUISA, VAZZA, GIOVANNI, POLO G, BERGAMIN, GIORGIA, MORO, ENRICO   +7 more
core  

Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. [PDF]

, 2011
Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features.
Conte, Amelia, Sabatelli M., Luigetti, Marco, FABRIZI, Gian Maria, Sabatelli, Mario, A. Conte, A. Del Grande, TAIOLI, Federica, Luigetti M., M. Luigetti, G.M. Fabrizi, Del Grande A., Conte A., Del Grande, Alessandra, F. Taioli, M. Sabatelli   +15 more
core   +1 more source