Results 1 to 10 of about 12,888 (214)

The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?

Diseases, 2020
Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes.
Diana Lehmann Urban, Leila Motlagh Scholle, Matias Wagner, Albert C. Ludolph, Angela Rosenbohm   +4 more
doaj   +3 more sources

Generation of four iPSC lines from four patients with Leigh syndrome carrying homoplasmic mutations m.8993T > G or m.8993T > C in the mitochondrial gene MT-ATP6 [PDF]

Stem Cell Research, 2022
We report the generation of four human iPSC lines (8993-A12, 8993-B12, 8993-C11, and 8993-D7) from fibroblasts of four patients affected by maternally inherited Leigh syndrome (MILS) carrying homoplasmic mutations m.8993T > G or m.8993T > C in the ...
Carmen Lorenz, Annika Zink, Marie-Therese Henke, Selma Staege, Barbara Mlody, Miriam Bünning, Erich Wanker, Sebastian Diecke, Markus Schuelke, Alessandro Prigione   +9 more
doaj   +2 more sources

Trends of Eurasian Perch (Perca fluviatilis) mtDNA ATP6 Region Genetic Diversity within the Hydro-Systems of the Eastern Part of the Baltic Sea in the Anthropocene

Animals, 2023
The intraspecific genetic diversity of freshwater fish inhabiting hydro-systems of the macrogeographic area spreading from the Black to Baltic Seas requires comprehensive investigation from fundamental and practical perspectives.
Adomas Ragauskas, Ieva Ignatavičienė, Vytautas Rakauskas, Dace Grauda, Petras Prakas, Dalius Butkauskas   +5 more
doaj   +1 more source

Genetic diversity of Echinococcus granulosus sensu lato from animals and humans in Bosnia and Herzegovina

Parasites & Vectors, 2022
Background Cystic echinococcosis (CE) is recognized as one of the most prevalent zoonotic diseases in Bosnia and Herzegovina. However, no systemic investigation of the genetic diversity of Echinococcus granulosus sensu lato circulating among animals and ...
Adnan Hodžić, Amer Alić, Amir Spahić, Josef Harl, Relja Beck   +4 more
doaj   +1 more source

Amelioration of Leigh syndrome induced by mouse blastocyst complementation with a mutant human mitochondrial ATP synthase 6

Clinical and Translational Discovery, 2022
Background Mutation of the m. 8993 T > G ATP6 subunit of ATP synthase causes a maternally inherited Leigh Syndrome (LS), a rapidly fatal encephalomyelopathy in childhood called and related Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) in adults ...
Huijun Yuan, Keith A. Webster, Muhammad Tariq Bhatti, William W. Hauswirth, Alfred S. Lewin, John Guy   +5 more
doaj   +1 more source

Investigation of B-atp6-orfH79 distributing in Chinese populations of Oryza rufipogon and analysis of its chimeric structure

BMC Plant Biology, 2023
Background The cytoplasmic male sterility (CMS) of rice is caused by chimeric mitochondrial DNA (mtDNA) that is maternally inherited in the majority of multicellular organisms.
Xuemei Zhang, Shuying Chen, Zixian Zhao, Cunqiang Ma, Yating Liu   +4 more
doaj   +1 more source

Anti-AQP4–IgG-positive Leigh syndrome: A case report and review of the literature

Frontiers in Pediatrics, 2023
BackgroundLeigh syndrome (LS; OMIM: 256000) is a progressive neurodegenerative disease caused by genetic mutations resulting in mitochondrial oxidative phosphorylation defects. The prognosis is poor, with most children dying before the age of 2 years. MT-
Jun Chen, Jun Chen, Jun Chen, Jianjun Wang, Jianjun Wang, Jianjun Wang, Jing Gan, Jing Gan, Jing Gan, Rong Luo, Rong Luo, Rong Luo, Zuozhen Yang, Mengmeng Liang, Xiaolu Chen, Xiaolu Chen, Xiaolu Chen   +16 more
doaj   +1 more source

RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother

Stem Cell Research, 2022
We used a non-integrative self-replicating RNA vector to establish four iPSC lines: two iPSC lines from a young male carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 (present at virtual homoplasmic level), and two iPSC lines from his ...
Tabea Steiner, Annika Zink, Marie-Therese Henke, Giulia Cecchetto, Miriam Buenning, Andrea Rossi, Markus Schuelke, Alessandro Prigione   +7 more
doaj   +1 more source

Sequence analysis of the ATP synthase of subunits (ATP8 and ATP6) genes of mitochondrial DNA genome from Ailuropoda melanoleuca

Mitochondrial DNA. Part B. Resources, 2018
To explore the effects of the mutations of ATP6 and ATP8 genes on energy metabolism and genetic structure, we sequenced the ATP6 and ATP8 genes of Ailuropoda melanoleuca.
Yaodong Hu, Huizhong Pang, Shanshan Ling, Rongping Wei, Yun Zhu, Hemin Zhang, Diyan Li, Desheng Li, Chengdong Wang   +8 more
doaj   +1 more source

Validation of qPCR reference genes in lymphocytes from patients with amyotrophic lateral sclerosis. [PDF]

PLoS ONE, 2017
Quantitative polymerase chain reaction (qPCR) is the most specific and reliable method for determination of mRNA gene expression. Crucial point for its accurate normalization is the choice of appropriate internal control genes (ICGs). In the present work
Ewa Usarek, Anna Barańczyk-Kuźma, Beata Kaźmierczak, Beata Gajewska, Magdalena Kuźma-Kozakiewicz   +4 more
doaj   +1 more source