Literature DB >> 21815885

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.

F Tort, M Del Toro, W Lissens, J Montoya, M Fernàndez-Burriel, A Font, N Buján, A Navarro-Sastre, E López-Gallardo, J A Arranz, E Riudor, P Briones, A Ribes.   

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Year:  2011        PMID： 21815885     DOI： 10.1111/j.1399-0004.2011.01650.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  8 in total

1.  Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

Authors:  E J Bhoj; M Li; R Ahrens-Nicklas; L C Pyle; J Wang; V W Zhang; C Clarke; L J Wong; N Sondheimer; C Ficicioglu; M Yudkoff
Journal:  JIMD Rep       Date:  2015-02-15

Review 2.  3-Methylglutaric acid in energy metabolism.

Authors:  Dylan E Jones; Leanne Perez; Robert O Ryan
Journal:  Clin Chim Acta       Date:  2019-11-12       Impact factor: 3.786

3.  TMEM70 deficiency: long-term outcome of 48 patients.

Authors:  Martin Magner; Veronika Dvorakova; Marketa Tesarova; Stella Mazurova; Hana Hansikova; Martin Zahorec; Katarina Brennerova; Vladimir Bzduch; Ronen Spiegel; Yoseph Horovitz; Hanna Mandel; Fatma Tuba Eminoğlu; Johannes Adalbert Mayr; Johannes Koch; Diego Martinelli; Enrico Bertini; Vassiliki Konstantopoulou; Joél Smet; Shamima Rahman; Alexander Broomfield; Vesna Stojanović; Carlo Dionisi-Vici; Rudy van Coster; Eva Morava; Eva Morava-Kozicz; Wolfgang Sperl; Jiri Zeman; Tomas Honzik
Journal:  J Inherit Metab Dis       Date:  2014-10-18       Impact factor: 4.982

4.  TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Authors:  Alessandra Torraco; Daniela Verrigni; Teresa Rizza; Maria Chiara Meschini; Martha Elisa Vazquez-Memije; Diego Martinelli; Marzia Bianchi; Fiorella Piemonte; Carlo Dionisi-Vici; Filippo Maria Santorelli; Enrico Bertini; Rosalba Carrozzo
Journal:  Neurogenetics       Date:  2012-09-18       Impact factor: 2.660

5.  Role of non-enzymatic chemical reactions in 3-methylglutaconic aciduria.

Authors:  Dylan E Jones; Irina Romenskaia; Dylan K Kosma; Robert O Ryan
Journal:  FEBS J       Date:  2021-12-13       Impact factor: 5.622

6.  Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.

Authors:  Keiichi Hirono; Fukiko Ichida; Natsuhito Nishio; Minako Ogawa-Tominaga; Takuya Fushimi; Rene G Feichtinger; Johannes A Mayr; Masakazu Kohda; Yoshihito Kishita; Yasushi Okazaki; Akira Ohtake; Kei Murayama
Journal:  Clin Case Rep       Date:  2019-02-07

Review 7.  A Review of Oxidative Stress Products and Related Genes in Early Alzheimer's Disease.

Authors:  Federica Cioffi; Rayan Hassan Ibrahim Adam; Ruchi Bansal; Kerensa Broersen
Journal:  J Alzheimers Dis       Date:  2021       Impact factor: 4.472

Review 8.  From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.

Authors:  Caterina Garone; Andrea Pietra; Salvatore Nesci
Journal:  Life (Basel)       Date:  2022-03-10
  8 in total

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