Results 61 to 70 of about 10,242,574 (257)

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

EMBO Molecular Medicine, 2018
Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N = 231 ...
J. Grady, S. Pickett, Y. Ng, C. Alston, E. Blakely, S. Hardy, C. Feeney, A. Bright, A. Schaefer, G. Gorman, R. McNally, Robert W. Taylor, D. Turnbull, R. Mcfarland   +13 more
semanticscholar   +1 more source

Mitochondrial autophagy: molecular mechanisms and implications for cardiovascular disease

Cell Death and Disease, 2022
Mitochondria are highly dynamic organelles that participate in ATP generation and involve calcium homeostasis, oxidative stress response, and apoptosis.
Anqi Li, Meng Gao, Bili Liu, Yuan Qin, Lei Chen, Hanyu Liu, Huayan Wu, Guohua Gong   +7 more
semanticscholar   +1 more source

Regulation of mitochondrial permeability transition pore by PINK1 [PDF]

, 2012
Background: Loss-of-function mutations in PTEN-induced kinase 1 (PINK1) have been linked to familial Parkinson’s disease, but the underlying pathogenic mechanism remains unclear.
Caballero, Erica, Chan, David, Gautier, Clemente A., Glaime, Emilie, Núñez, Lucía, Shen, Jie, Song, Zhiyin, Villalobos, Carlos   +7 more
core   +3 more sources

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

PLoS ONE, 2019
Background Mitochondrial disease is a family of genetic disorders characterized by defects in the generation and regulation of energy. Epilepsy is a common symptom of mitochondrial disease, and in the vast majority of cases, refractory to commonly used ...
Amanda H. Kahn-Kirby, Akiko Amagata, Celine I. Maeder, J. J. Mei, S. Sideris, Y. Kosaka, Andrew Hinman, Stephanie A. Malone, Joel J. Bruegger, Leslie Wang, Virna Kim, W. Shrader, K. G. Hoff, Joey C. Latham, E. Ashley, M. Wheeler, E. Bertini, R. Carrozzo, D. Martinelli, C. Dionisi-Vici, K. Chapman, G. Enns, W. Gahl, L. Wolfe, R. Saneto, Simon C. Johnson, J. Trimmer, M. Klein, Charles R. Holst   +28 more
semanticscholar   +1 more source

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder

Communications Biology
Classical metabolomic and new metabolic network methods were used to study the developmental features of autism spectrum disorder (ASD) in newborns (n = 205) and 5-year-old children (n = 53). Eighty percent of the metabolic impact in ASD was caused by 14
Sai Sachin Lingampelly, Jane C. Naviaux, Luke S. Heuer, Jonathan M. Monk, Kefeng Li, Lin Wang, Lori Haapanen, Chelsea A. Kelland, Judy Van de Water, Robert K. Naviaux   +9 more
doaj   +1 more source

The combined effects of physical exercise training and detraining on adiponectin in overweight and obese children

Integrative Medicine Research, 2013
Background: The purpose of this study is to assess the combined exercise programs (12 weeks' physical exercise training, resistance and aerobic) and 6 weeks' detraining on the correlation of metabolic syndrome (MS) markers and plasma adiponectin level in
Jae-Young Jeon, Jin Han, Hyun-Jun Kim, Moon Soo Park, Dae Yun Seo, Yi-Sub Kwak   +5 more
doaj   +1 more source

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Biomolecules, 2020
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these
Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné   +2 more
doaj   +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

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

Cells, 2019
Dysfunction of mitochondria causes defects in oxidative phosphorylation system (OXPHOS) and increased production of reactive oxygen species (ROS) triggering the activation of the cell death pathway that underlies the pathogenesis of aging and various ...
D. Lin, Yu‐Wen Huang, Che-Sheng Ho, Pi-Lien Hung, M. Hsu, Tuan-Jen Wang, Tsu‐Yen Wu, Tsung-Han Lee, Zongguang Huang, Po-Chun Chang, M. Chiang   +10 more
semanticscholar   +1 more source

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]

, 2014
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E, Karanjia, Rustum, Pouw, Andrew E, Sadun, Alfredo A   +3 more
core   +3 more sources