Results 51 to 60 of about 12,888 (214)

Protein coding mitochondrial-targeted RNAs rescue mitochondrial disease in vivo

Neurobiology of Disease, 2018
Mitochondrial encephalomyopathies (MEs) result from mutations in mitochondrial genes critical to oxidative phosphorylation. Severe and untreatable ME results from mutations affecting each endogenous mitochondrial encoded gene, including all 13 ...
Desiree M. Markantone, Atif Towheed, Aaron T. Crain, Jessica M. Collins, Alicia M. Celotto, Michael J. Palladino   +5 more
doaj   +1 more source

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

, 2012
OBJECTIVE: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with ...
Champion, Michael, Holton, Janice L., Land, John, Crowe, Carol, Palace, Jacqueline, Cottenie, Ellen, Murphy, Sinead M., Robb, Stephanie A., Hargreaves, Iain, Hanna, Michael G., Sweeney, Mary G., Page, Rupert, Reilly, Mary M., Flinter, Frances, Pitceathly, Robert D. S., Heales, Simon, Rahman, Shamima, Longman, Cheryl, Blake, Julian, Woodward, Cathy, Mudanohwo, Ese E., Chalasani, Annapurna, Lunn, Michael P., Houlden, Henry, Hanna, Michael G, Rose, Michael, Mudanohwo, Ese E, Lunn, Michael P, Robb, Stephanie A, Reilly, Mary M, Sweeney, Mary G, Murphy, Sinéad M, Pitceathly, Robert D S, Holton, Janice L   +33 more
core   +1 more source

ATP Synthase Subunit a Supports Permeability Transition in Yeast Lacking Dimerization Subunits and Modulates yPTP Conductance [PDF]

, 2020
Background/Aims: Mitochondrial ATP synthase, in addition to being involved in ATP synthesis, is involved in permeability transition pore (PTP) formation, which precedes apoptosis in mammalian cells and programmed cell death in yeast ...
Baranowska, Emilia, Niedźwiecka, Katarzyna, Panja, Chiranjit, Kucharczyk, Roza   +3 more
core   +2 more sources

Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Reliable clinical phenotyping is crucial for diagnosis, treatment, and research in hyperkinetic movement disorders, yet its interrater reliability remains uncertain. Objectives To quantify interrater agreement in clinical phenotyping of hyperkinetic movement disorders among experts in a large, phenotypically diverse cohort.
Madelein van der Stouwe, Olof Vermeulen, Wieke Eggink, Tove Henriksen, Eavan McGovern, Marenka Smit, Selma Aybek, Agnita Boon, Rick Brandsma, Andres Deik, Roberto Erro, Alberto Espay, Cristian Falup‐Pecurariu, Stephen Frucht, Christos Ganos, Emilia Gatto, Rick Helmich, Christine Klein, Hans Koelman, Vincent Odekerken, Lisette Koens, Abhimanyu Mahajan, Francesca Morgante, Alexander Münchau, Pattamon Panyakaew, Kathryn Peall, Bélen Pérez‐Dueñas, Emanuel Roze, Anna Sadnicka, Susanne Schneider, Petra Schwingenschuh, Tereza Serranova, Matej Skorvanek, Maria Stamelou, Gertrúd Tamas, Michele Tinazzi, Anna Valadas, Wim Vandenberghe, Jeroen de Vries, Rodi Zutt, Sterre van der Veen, Rogier Luiken, Inge Tuitert, Marina Tijssen   +43 more
wiley   +1 more source

Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer

Molecular Medicine Reports, 2014
The role of the mitochondria in the process of carcinogenesis, mainly oxidative phosphorylation, mostly concerns their participation in the production of free radicals and ATP and in the process of apoptosis. The purpose of this study was to detect potential changes in the genes encoding the subunits 6 and 8 of the ATP synthase and their impact on the ...
GRZYBOWSKA-SZATKOWSKA, LUDMIŁA, ŚLASKA, BRYGIDA, RZYMOWSKA, JOLANTA, BRZOZOWSKA, ANNA, FLORIAŃCZYK, BOLESŁAW   +4 more
openaire   +4 more sources

Mitochondrial Allotopic Gene Therapy Approaches Using a Drosophila Model with an Endogenous ATP6 Mutation [PDF]

, 2014
Mitochondrial Encephalomyopathies are a group of disorders with common symptoms such as neurological, cardiac, and muscular dysfunctions. Mutations in ATP6, a protein-coding gene in the mitochondria genome, can lead to NARP, MILS, or FBSN diseases.
Chiu, Wai Kan
core  

Multicentric origin and diversification of atp6‐orf79‐like structures reveal mitochondrial gene flows in Oryza rufipogon and Oryza sativa

Evolutionary Applications, 2020
Cytoplasmic male sterility (CMS) is a widely used genetic tool in modern hybrid rice breeding. Most genes conferring rice gametophytic CMS are homologous to orf79 and co‐transcribe with atp6.
Wenchuang He, Caijin Chen, Yawo Mawunyo Nevame Adedze, Xilong Dong, Kun Xi, Yongsheng Sun, Tengfei Dang, Deming Jin   +7 more
doaj   +1 more source

Full‐length transcriptome profiling of true bug mitochondrial genomes reveals the unique transcriptional regulation during insect evolution

Insect Science, EarlyView.
The mitogenome was transcribed into complete primary polycistrons on both strands. The heteropteran mitochondrial transcription termination factor (HmTTF) functions as a bidirectional attenuator rather than a terminator, and co‐evolution of HmTTF and the binding sites was observed.
Shiwen Xu, Yuange Duan, Ling Ma, Qiaoqiao Liu, Fan Song, Wanzhi Cai, Hu Li   +6 more
wiley   +1 more source

Cenozoic Tectonics Ignite Mitochondrial Codon Innovations Propelling Canid Body Size Evolution and Transcontinental Radiations

Integrative Zoology, EarlyView.
We decode mitochondrial genomes across all extant canids, revealing lineage‐specific codon optimization driven by altitude, predation, and body size. A tripartite framework integrates geological events, metabolic constraints, and adaptive radiation to explain carnivore evolution.
Xiaoyang Wu, Xibao Wang, Yongquan Shang, Yao Chen, Haotian Cai, Tian Xia, Qinguo Wei, Weilai Sha, Honghai Zhang   +8 more
wiley   +1 more source

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

American Journal of Ophthalmology Case Reports
Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment,
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon   +5 more
doaj   +1 more source