Results 21 to 30 of about 541,087 (305)

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH:ubiquinone oxidoreductase Ndufc2 subunit [PDF]

, 2017
Ndufc2, a subunit of the NADH:ubiquinone oxidoreductase, plays a key role in the assembly and activity of complex I within the mitochondrial OXPHOS chain. Its deficiency has been shown to be involved in diabetes, cancer and stroke.
1000 Genomes Project Consortium, Andrea Micaloni, Aron M Geurts, Baltan, Baltan, Baltan, Carta, Chin, Cristina Scrofani, De Smaele, Franca Bianchi, Galmozzi, Gershoni, Hackenbrock, Hackenbrock, Igci, Koopman, Leonard, Leone, Maria Rosaria Torrisi, Massimo Volpe, Maurizio Forte, Mimaki, Olsson, Putignani, Raffa, Roberta Coluccia, Rossignol, Rubattu, Rubattu, Sabatino Valente, Salvatore Raffa, Scalettar, Sebastiano Sciarretta, Shi, Smeitink, Speranza Rubattu, Turrens, Willems   +38 more
core   +1 more source

Mitochondrial Dysfunction in Autism [PDF]

JAMA, 2010
Impaired mitochondrial function may influence processes highly dependent on energy, such as neurodevelopment, and contribute to autism. No studies have evaluated mitochondrial dysfunction and mitochondrial DNA (mtDNA) abnormalities in a well-defined population of children with autism.To evaluate mitochondrial defects in children with autism ...
Giulivi, Cecilia, Zhang, Yi-Fan, Omanska-Klusek, Alicja, Ross-Inta, Catherine, Wong, Sarah, Hertz-Picciotto, Irva, Tassone, Flora, Pessah, Isaac N   +7 more
openaire   +4 more sources

The Association of Tau With Mitochondrial Dysfunction in Alzheimer's Disease

Frontiers in Neuroscience, 2018
Increasing evidence suggests that abnormally hyperphosphorylated tau plays a vital role in the pathogenesis of Alzheimer's disease (AD). Mitochondrial dysfunction also has a recognized role in the pathophysiology of AD.
Ying Cheng, Feng Bai
doaj   +1 more source

TOM40 Mediates Mitochondrial Dysfunction Induced by α-Synuclein Accumulation in Parkinson's Disease. [PDF]

, 2013
Alpha-synuclein (α-Syn) accumulation/aggregation and mitochondrial dysfunction play prominent roles in the pathology of Parkinson's disease. We have previously shown that postmortem human dopaminergic neurons from PD brains accumulate high levels of ...
A Bender, A Iwai, AB Singleton, AD Roses, AH Schapira, AH Schapira, AK Reeve, Andreas Bender, Andrew O. Koob, Anthony Adame, B Spencer, Brian Spencer, C Meisinger, Christoph Laub, D Bruno, DA Clayton, DD Song, E Masliah, Edward Rockenstein, Eliezer Masliah, Emily Pham, F Fornai, H Yamamoto, IG Zigoneanu, JQ Trojanowski, K Pennington, KJ Krishnan, L Devi, L Devi, L He, L Mucke, L Naldini, LA Bindoff, LJ Martin, M Hashimoto, M Manczak, MA McFarland, Matthias Elstner, MF Beal, MG Spillantini, MH Polymeropoulos, Michael Mante, MS Chong, MS Parihar, P Klivenyi, Paula Desplats, Philipp J. Kahle, R Banerjee, R Kruger, R Scherz-Shouval, RA Marr, S Totterdell, Sarina Mueller, SM Toggas, Thomas Klopstock, U Shirendeb, V Choubey, VM Mann, W Dauer, WW Li, Y Kraytsberg   +60 more
core   +3 more sources

Ameliorating Mitochondrial Dysfunction of Neurons by Biomimetic Targeting Nanoparticles Mediated Mitochondrial Biogenesis to Boost the Therapy of Parkinson's Disease

Advanced Science, 2023
Mitochondrial dysfunction of neurons is the core pathogenesis of incurable Parkinson's disease (PD). It is crucial to ameliorate the mitochondrial dysfunction of neurons for boosting the therapy of PD.
Qing Zheng, Hanghang Liu, Hao Zhang, Yaobao Han, Jiaxin Yuan, Tingting Wang, Yifan Gao, Zhen Li   +7 more
doaj   +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

Mitochondrial Dysfunction Meets Senescence [PDF]

Trends in Biochemical Sciences, 2016
Cellular senescence and mitochondrial dysfunction are hallmarks of ageing, but until now their relationship has not been clear. Recent work by Wiley et al. shows that mitochondrial defects can cause a distinct senescence phenotype termed MiDAS (mitochondrial dysfunction-associated senescence).
Suchira, Gallage, Jesús, Gil
openaire   +2 more sources

The multifaceted roles of natural products in mitochondrial dysfunction

Frontiers in Pharmacology, 2023
Mitochondria are the primary source of energy production in cells, supporting the metabolic demand of tissue. The dysfunctional mitochondria are implicated in various diseases ranging from neurodegeneration to cancer.
Qianrun Chen, Danhua Ruan, Jiayan Shi, Dongru Du, Ce Bian   +4 more
doaj   +1 more source

Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]

, 2016
A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian, Dimmock, David P., Friederich, Marisa W., Geurts, Aron M., Helbling, Daniel, Jarzembowski, Jason, Lawlor, Michael W., Meng, Hui, Van Hove, Johan L.K.   +8 more
core   +2 more sources

Mitochondrial Dysfunction in Metabolic Disease

Indonesian Biomedical Journal, 2012
BACKGROUND: Mitochondrial function and behavior are central to the physiology of humans and, consequently, "mitochondrial dysfunction" has been implicated in a wide range of disease.
Anna Meiliana, Andi Wijaya
doaj   +1 more source