Results 31 to 40 of about 12,888 (214)

A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8 [PDF]

, 2022
Background An inability of a man to conceive a potentially fertile woman after a year of unprotected intercourse is defned as male infertility. It is reported that 30–40% of males in their reproductive years have abnormalities in sperm production ...
Dahadhah, Fatina W., Al Zoubi, Mazhar Salim, Saleh Jaweesh, Mayyas, Al Smadi, Mohammad A., Amor, Houda, Hammadeh, Mohamad Eid, Alarjah, Manal Issam Abu   +6 more
core   +1 more source

Mutationen in MT-ATP6 als Ursache von Spinocerebellärer Ataxie (SCA) [PDF]

, 2018
Ataxie ist ein bekanntes Begleitsymptom mitochondrialer Syndrome, die üblicherweise multisystemisch manifestieren. Bekannte Loci betreffen auch das Gen MT-ATP6, das für die Untereinheit a der mitochondrialen FoF1-ATP-Synthase codiert.
Hofmann, Amrei
core   +1 more source

Regulation of mitochondrial translation of theATP8/ATP6mRNA by Smt1p

Molecular Biology of the Cell, 2016
Expression of the mitochondrially encoded ATP6 and ATP8 genes is translationally regulated by F1ATPase. We report a translational repressor (Smt1p) of the ATP6/8 mRNA that, when mutated, restores translation of the encoded Atp6p and Atp8p subunits of the ATP synthase.
Rak, Malgorzata, Su, Chen Hsien, Xu, Jonathan Tong, Azpiroz, Ricardo, Singh, Angela Mohan, Tzagoloff, Alexander   +5 more
openaire   +2 more sources

Epilepsy inMT‐ATP6‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy [PDF]

Annals of Clinical and Translational Neurology, 2021
AbstractThe study aims to characterize the epilepsy phenotype ofmaternallyinheritedLeigh'ssyndrome (MILS) andneuropathy,ataxia,retinitispigmentosa (NARP) due to mutations in the mitochondrialATP6gene and to correlate electroclinical features with mutant heteroplasmy load (HL).
Licchetta L., Ferri L., La Morgia C., Zenesini C., Caporali L., Lucia Valentino M., Minardi R., Fulitano D., Di Vito L., Mostacci B., Alvisi L., Avoni P., Liguori R., Tinuper P., Bisulli F., Carelli V.   +15 more
openaire   +3 more sources

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. [PDF]

, 2017
We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability.
Hahn, Dagmar, Richter, Uwe, Schaller, André, Jackson, Christopher B., Uwe Richter, Jean-Marc Nuoffer, André Schaller, Christopher B. Jackson, Barbara Schröter, Schmitt-Mechelke, Thomas, Dagmar Hahn, Battersby, Brendan J, Thomas Schmitt-Mechelke, Jackson, Christopher B, Battersby, Brendan J., Nuoffer, Jean-Marc, Brendan J. Battersby, Marttinen, Paula, Paula Marttinen, Schröter, Barbara, Richter U, Schmitt-Mechelke T, Schaller A, Battersby BJ, Marttinen P, Schröter B, Hahn D, Jackson CB, Nuoffer JM   +28 more
core   +2 more sources

Fertility restoration by Ifr1 in rice with BT-type cytoplasmic male sterility is associated with a reduced level, but not processing, of atp6-orf79 co-transcribed RNA [PDF]

, 2010
BT-type cytoplasmic male sterility (CMS) in rice is associated with accumulation of unprocessed dicistronic RNA containing a duplicated atp6 (B-atp6) and an unusual open reading frame, orf79, encoding a cytotoxic peptide in mitochondria. The male-sterile
Sano, Yoshio, Ogino, Atsushi, Kanazawa, Akira, Ohta, Haruka, Kasai, Megumi   +4 more
core   +1 more source

A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype [PDF]

, 2023
As the last step of the OXPHOS system, mitochondrial ATP synthase (or complex V) is responsible for ATP production by using the generated proton gradient, but also has an impact on other important functions linked to this system.
Patricia Ferreira, Ferreira, Patricia, Fernández-Silva, Patricio, Raquel Moreno-Loshuertos, Ruth Soler-Agesta, Movilla, Nieves, Moreno-Loshuertos, Raquel, Soler-Agesta, Ruth, José Antonio Enríquez, Marco-Brualla, Joaquín, Nieves Movilla, Patricio Fernández-Silva, Joaquín Marco-Brualla, Enríquez, José Antonio   +13 more
core   +1 more source

Absence of genetic structure in Baylisascaris schroederi populations, a giant panda parasite, determined by mitochondrial sequencing

Parasites & Vectors, 2014
Background Infection with the parasitic nematode, Baylisascaris schroederi (Ascaridida: Nematoda), is one of the most important causes of death in giant pandas, and was responsible for half of deaths between 2001 and 2005.
Yue Xie, Xuan Zhou, Zhihe Zhang, Chengdong Wang, Yun Sun, Tianyu Liu, Xiaobin Gu, Tao Wang, Xuerong Peng, Guangyou Yang   +9 more
doaj   +1 more source

Properties of ATP6 mutant strains.

, 2012
The atp6-L183R mutation is homologous to human T8993G/L156R, the most frequent mutation associated to neurogenic ataxia retinitis pigmentosa (NARP). The atp6-L247R mutation is homologous to human T9176G/L217R, which is associated to maternally-inherited ...
Aurélie Massoni-Laporte (118316), Bénédicte Salin (48466), Claudine David (118314), Stéphane Duvezin-Caubet (118312), Manuel Rojo (118318), Cécile Sauvanet (118310), Jean-Paul di Rago (118317)   +6 more
core   +1 more source

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2007
Two point mutations (T>G and T>C) at the same 8993 nucleotide of mitochondrial DNA (at comparable mutant load), affecting the ATPase 6 subunit of the F1F0-ATPase, result in neurological phenotypes of variable severity in humans. We have investigated mitochondrial function in lymphocytes from individuals carrying the 8993T>C mutation: the results were ...
Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.   +9 more
openaire   +2 more sources