Results 91 to 100 of about 21,239 (181)

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families [PDF]

, 2010
Background Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.
Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer, Michael B Russell, H Skre, PJ Dyck, AE Harding, G Nicholson, AE Harding, K Kijima, VH Lawson, K Verhoeven, A Santel, M Rojo, H Skre, H Skre, H Skre, PJ Dyck, S Rozen, JT den Dunnen, NK Aarskog, S Züchner, C Neusch, K Engelfried, I Banchs, D Zhu, KW Chung, S Züchner   +28 more
core   +1 more source

Proteomic analysis of the zone of degeneration at the mitosis–meiosis transition stage in wild‐caught male catshark (Scyliorhinus canicula), correlated with an unusually high‐water temperature in the English Channel

Journal of Fish Biology, EarlyView.
Abstract In the context of current global change, variations in water temperature are one of the environmental conditions with serious consequences for marine life, including reproductive processes. In the small spotted catshark Scyliorhinus canicula, spermatogenesis occurs in spermatocysts composed of synchronously developing germ cells associated ...
Fabian Jeanne, Stanislas Pilet, Sean Heighton, Benoît Bernay, Pascal Sourdaine   +4 more
wiley   +1 more source

Signalling Mechanisms Underlying Doxorubicin and Nox2 NADPH Oxidase-Induced Cardiomyopathy: Involvement of Mitofusin-2 [PDF]

, 2017
BACKGROUND AND PURPOSE: The anthracycline doxorubicin (DOX), although successful as a first-line cancer treatment, induces cardiotoxicity linked with increased production of myocardial reactive oxygen species (ROS), with Nox2 NADPH oxidase-derived ...
Dunne, Philip D, Edgar, Kevin S, Grieve, David J, Kearney, Anna M, McDermott, Barbara J, McLaughlin, Declan, O'Neill, Karla M, Zhao, Youyou   +7 more
core   +1 more source

One day of environment‐induced heat stress causes injury to the murine kidney

Experimental Physiology, EarlyView.
Abstract Environment‐induced heat stress (EIHS) results from sustained body temperature elevation owing to prolonged exposure to heat and humidity. We hypothesized that EIHS would cause kidney injury and cellular dysfunction. To test this hypothesis, female C57 mice were exposed to EIHS (n = 14; 37.6°C, 42.0% relative humidity) or thermoneutral (TN ...
Melissa Roths, Alyona Michael, Zachary J. Schlader, Joshua T. Selsby   +3 more
wiley   +1 more source

Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit [PDF]

, 2012
Mitochondria continually undergo fusion and fission, and these dynamic processes play a major role in regulating mitochondrial function. Studies of several genes associated with familial Parkinson's disease (PD) have implicated aberrant mitochondrial ...
Chan, David C., Chu, Quynh N., Meng, Shuxia, Pham, Anh H.   +3 more
core   +2 more sources

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

Altered brain energetics induces mitochondrial fission arrest in Alzheimer's Disease. [PDF]

, 2016
Altered brain metabolism is associated with progression of Alzheimer's Disease (AD). Mitochondria respond to bioenergetic changes by continuous fission and fusion.
Bachmeier, Benjamin V, Christensen, Trace A, Diaz Brinton, Roberta, Gateno, Benjamin, Gylys, Karen H, Itoh, Kie, Parisi, Joseph E, Patterson, Emily R, Poon, Wayne W, Salisbury, Jeffrey L, Schroeder, Andreas, Sesaki, Hiromi, Trushin, Sergey, Trushina, Eugenia, Yao, Jia, Zhang, Liang   +15 more
core   +1 more source

Skeletal muscle mitochondrial marker responses to a single bout and 6 weeks of high load versus high volume resistance training in previously trained men

Experimental Physiology, EarlyView.
Abstract The effects of high‐load (HL) versus high‐volume (HV) resistance training (RT) on various molecular outcomes are similar. However, mitochondrial responses remain understudied. Therefore, the purpose of this study was to interrogate mitochondrial mRNA and protein responses to acute and chronic HL versus HV RT.
Breanna Mueller, Carlton D. Fox, Hailey A. Parry, Paulo H. C. Mesquita, Christopher G. Vann, Bradley A. Ruple, Casey L. Sexton, Joshua S. Godwin, Mason M. McIntosh, Darren T. Beck, Kaelin C. Young, Stuart M. Phillips, Andreas N. Kavazis, Michael D. Roberts   +13 more
wiley   +1 more source

The Aging Heart: Mitophagy at the Center of Rejuvenation. [PDF]

, 2020
Aging is associated with structural and functional changes in the heart and is a major risk factor in developing cardiovascular disease. Many recent studies have focused on increasing our understanding of the basis of aging at the cellular and molecular ...
Gustafsson, Åsa B, Liang, Wenjing J
core   +1 more source

Mitochondrial capacities and quality control following short‐ and long‐term weight restoration after simulated anorexia nervosa

Experimental Physiology, EarlyView.
Abstract Anorexia nervosa (AN) is a psychiatric disorder characterized by prolonged caloric restriction and skeletal muscle atrophy. Mitochondrial health is a key mediator of muscle function, yet the role of mitochondria during AN and following weight regain has not been investigated. The objective of this study was to evaluate mitochondrial capacities
Megan E. Rosa‐Caldwell, Toby L. Chambers, Lauren Breithaupt, Ruqaiza Muhyudin, Patience Salvalina Okoto, Sadie R. Thompson, Emily E. Rothacker, Claire Greenhill, Katie A. Wood, Kevin A. Murach, Sarah H. White‐Springer, Ursula B. Kaiser, Seward B. Rutkove   +12 more
wiley   +1 more source