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ArticlesPeer ReviewedFull Text
A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype
Author / Creator:Moreno-Loshuertos, Raquel ; Movilla, Nieves ; Marco-Brualla, Joaquín ; Soler-Agesta, Ruth ; Ferreira, Patricia ; Enríquez, José Antonio ; Fernández-Silva, Patricio
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1300
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Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population
Author / Creator:Vellingiri, Balachandar ; Venkatesan, Dhivya ; Iyer, Mahalaxmi ; Mohan, Gomathi ; Krishnan, Padmavathi ; Sai Krishna, Krothapalli ; R, Sangeetha ; Narayanasamy, Arul ; Gopalakrishnan, Abilash Valsala ; Kumar, Nachimuthu Senthil ; Subramaniam, Mohana Devi
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2023-05, Vol.73 (4-5), p.214-224
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ArticlesPeer ReviewedFull Text
The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial
Author / Creator:Hosseini, Fatemeh Sadat ; Shamsipour, Mansour ; Yazdekhasti, Hossein ; Akbari-Asbagh, Firoozeh ; Shahraki, Zahra ; Aghaee-Bakhtiari, Seyed Hamid
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Naunyn-Schmiedeberg's archives of pharmacology, 2021-07, Vol.394 (7), p.1487-1495
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ArticlesPeer ReviewedFull Text
Correction: Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population
Author / Creator:Vellingiri, Balachandar ; Venkatesan, Dhivya ; Iyer, Mahalaxmi ; Mohan, Gomathi ; Krishnan, Padmavathi ; Krishna, Krothapalli Sai ; R, Sangeetha ; Narayanasamy, Arul ; Gopalakrishnan, Abilash Valsala ; Kumar, Nachimuthu Senthil ; Subramaniam, Mohana Devi
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2023-06, Vol.73 (6), p.485-485
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ArticlesPeer ReviewedFull Text
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein
Author / Creator:López-Gallardo, E ; Solano, A ; Herrero-Martín, M D ; Martínez-Romero, Í ; Castaño-Pérez, M D ; Andreu, A L ; Herrera, A ; López-Pérez, M J ; Ruiz-Pesini, E ; Montoya, J
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2009-01, Vol.46 (1), p.64-67
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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review
Author / Creator:Liao, Yashi ; Lai, Yaxin ; Chen, Xinxin ; Zhao, Shanshan
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2025-03, Vol.25 (1), p.128-7, Article 128
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ArticlesFull Text
New Molecular Science Study Results from University of Zaragoza Described (A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2023-02, p.3259
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ArticlesFull Text
New Findings Reported from Shri Mata Vaishno Devi University Describe Advances in Leigh Disease (A Case Report On a Novel Mt-atp6 Gene Variation In Atypical Mitochondrial Leigh Syndrome Associated Wit...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2019-06, p.3077
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ArticlesFull Text
Reports from University of Sfax Provide New Insights into Hearing Loss (Co segregation of the m.1555AG mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2017-04, p.2276
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Newsletter articlesFull Text
Investigators from George Washington University Report New Data on Leigh Disease (Novel insights into the functional metabolic impact of an apparent de novo m.8993T G variant in the MT-ATP6 gene assoc...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2018, p.256
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Newsletter articlesFull Text
Biochemistry; Reports from University of Sfax Advance Knowledge in Biochemistry (Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations...
Publisher:Atlanta: NewsRx
Journal title:Chemicals & Chemistry, 2016, p.3585
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Newsletter articlesFull Text
Hearing Diseases and Conditions - Hearing Loss; Reports from University of Sfax Provide New Insights into Hearing Loss (Co segregation of the m.1555AG mutation in the MT-RNR1 gene and mutations in MT-...
Publisher:Atlanta: NewsRx
Journal title:Obesity, Fitness & Wellness Week, 2017, p.2276
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ArticlesPeer ReviewedFull Text
Comparative Genomics Reveals Adaptive Protein Evolution and a Possible Cytonuclear Incompatibility between European and American Eels
Author / Creator:Pierre-Alexandre Gagnaire ; Normandeau, Eric ; Bernatchez, Louis
Publisher:Oxford: Oxford University Press
Journal title:Molecular biology and evolution, 2012-10, Vol.29 (10), p.2909-2919
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ArticlesPeer ReviewedFull Text
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Author / Creator:Ogawa, Erika ; Shimura, Masaru ; Fushimi, Takuya ; Tajika, Makiko ; Ichimoto, Keiko ; Matsunaga, Ayako ; Tsuruoka, Tomoko ; Ishige, Mika ; Fuchigami, Tatsuo ; Yamazaki, Taro ; Mori, Masato ; Kohda, Masakazu ; Kishita, Yoshihito ; Okazaki, Yasushi ; Takahashi, Shori ; Ohtake, Akira ; Murayama, Kei
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.685-693
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Author / Creator:Sofou, Kalliopi ; de Coo, Irenaeus F M ; Ostergaard, Elsebet ; Isohanni, Pirjo ; Naess, Karin ; De Meirleir, Linda ; Tzoulis, Charalampos ; Uusimaa, Johanna ; Lönnqvist, Tuula ; Bindoff, Laurence Albert ; Tulinius, Már ; Darin, Niklas
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-01, Vol.55 (1), p.21-27
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ArticlesPeer ReviewedFull Text
Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism
Author / Creator:Panja, Chiranjit ; Niedzwiecka, Katarzyna ; Baranowska, Emilia ; Poznanski, Jaroslaw ; Kucharczyk, Roza
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-06, Vol.13 (1), p.9972-9972, Article 9972
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ArticlesPeer ReviewedFull Text
Mitochondrial genome in sporadic breast cancer: A case control study and a proteomic analysis in a Sinhalese cohort from Sri Lanka
Author / Creator:Jayasekera, Lakshika P. ; Ranasinghe, Ruwandi ; Senathilake, Kanishka S. ; Kotelawala, Joanne T. ; de Silva, Kanishka ; Abeygunasekara, Priyanka H. ; Goonesinghe, Renuka ; Tennekoon, Kamani H.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-02, Vol.18 (2), p.e0281620-e0281620
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Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast
Author / Creator:Baranowska, Emilia ; Niedzwiecka, Katarzyna ; Panja, Chiranjit ; Charles, Camille ; Dautant, Alain ; Poznanski, Jarosław ; di Rago, Jean-Paul ; Tribouillard-Tanvier, Déborah ; Kucharczyk, Roza
Publisher:England: Cambridge Company of Biologists
Journal title:Disease models & mechanisms, 2023-04, Vol.16 (4)
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Role of Mitochondrial Mutations in Ocular Aggregopathy
Author / Creator:Chakraborty, Munmun ; Rao, Aparna ; Mohanty, Kuldeep
Publisher:United States: Cureus Inc
Journal title:Curēus (Palo Alto, CA), 2022-07, Vol.14 (7), p.e27129-e27129
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Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review
Author / Creator:Dawod, Phepy G. A. ; Jancic, Jasna ; Marjanovic, Ana ; Brankovic, Marija ; Jankovic, Milena ; Samardzic, Janko ; Gamil Anwar Dawod, Ayman ; Novakovic, Ivana ; Abdel Motaleb, Fayda I. ; Radlovic, Vladimir ; Kostic, Vladimir S. ; Nikolic, Dejan
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2021-10, Vol.11 (11), p.1969
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Showing 1 to 20 of 32 results

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

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Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population

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The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial

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Correction: Concurrent Assessment of Oxidative Stress and MT-ATP6 Gene Profiling to Facilitate Diagnosis of Autism Spectrum Disorder (ASD) in Tamil Nadu Population

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NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

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Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

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New Molecular Science Study Results from University of Zaragoza Described (A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype)

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New Findings Reported from Shri Mata Vaishno Devi University Describe Advances in Leigh Disease (A Case Report On a Novel Mt-atp6 Gene Variation In Atypical Mitochondrial Leigh Syndrome Associated Wit...

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Reports from University of Sfax Provide New Insights into Hearing Loss (Co segregation of the m.1555AG mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial...

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Investigators from George Washington University Report New Data on Leigh Disease (Novel insights into the functional metabolic impact of an apparent de novo m.8993T G variant in the MT-ATP6 gene assoc...

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Biochemistry; Reports from University of Sfax Advance Knowledge in Biochemistry (Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations...

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Hearing Diseases and Conditions - Hearing Loss; Reports from University of Sfax Provide New Insights into Hearing Loss (Co segregation of the m.1555AG mutation in the MT-RNR1 gene and mutations in MT-...

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Comparative Genomics Reveals Adaptive Protein Evolution and a Possible Cytonuclear Incompatibility between European and American Eels

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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

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Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism

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Mitochondrial genome in sporadic breast cancer: A case control study and a proteomic analysis in a Sinhalese cohort from Sri Lanka

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Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast

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Role of Mitochondrial Mutations in Ocular Aggregopathy

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Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review

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