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J-GLOBAL ID：202102247595202126   Reference number：21A0722122

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

ミトコンドリアキャリア遺伝子SLC25の突然変異に起因する疾患:レビュー【JST・京大機械翻訳】

Author (4)： Palmieri Ferdinando (Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy) ,  Scarcia Pasquale (Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy) ,  Monne Magnus (Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy) ,  Monne Magnus (Department of Sciences, University of Basilicata, via Ateneo Lucano 10, 85100 Potenza, Italy)
Material： Biomolecules (Web)
Volume： 10  Issue： 4  Page： 655  Publication year： 2020 
JST Material Number： U7148A  ISSN： 2218-273X  Document type： Article
Article type： 文献レビュー  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： In the 1980s, after the mitoch...

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Thesaurus term： phosphate ,  amino acid ,  fatty acid ,  *gene ,  phenotype ,  anemia ,  *mitochondria ,  dysfunction ,  axillary bud ,  infant ,  muscular disease ,  translocation(genetics) ,  brain disease ,  neuropathy ,  cofactor

Author keywords (9)： disease ,  error of metabolism ,  mitochondrial carrier ,  mitochondrial carrier disease ,  mitochondrial disease ,  mitochondrial transporter ,  membrane transport ,  mutation ,  SLC25.

JST classification (5)： Congenital diseases,deformities in general.  (GD03010V) ,  Transport of cell membrane  (EF04020R) ,  Cell physiology in general  (EF02010S) ,  Gene expression  (EC02040Q) ,  Biological function  (EB03040U)

Reference (187)：

• McCormick, E.M.; Zolkipli-Cunningham, Z.; Falk, M.J. Mitochondrial disease genetics update: Recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr. Opin. Pediatr. 2018, 30, 714-724.
• Rahman, J.; Rahman, S. Mitochondrial medicine in the omics era. Lancet 2018, 391, 2560-2574.
• Davis, R.L.; Liang, C.; Sue, C.M. Mitochondrial diseases. Handb. Clin. Neurol. 2018, 147, 125-141.
• Dard, L.; Blanchard, W.; Hubert, C.; Lacombe, D.; Rossignol, R. Mitochondrial functions and rare diseases. Mol. Aspects Med. 2020, 71, 100842.
• Viscomi, C.; Zeviani, M. Strategies for fighting mitochondrial diseases. J. Intern. Med. 2020. (In press)

Terms in the title (7)： ミトコンドリア ,  キャリア ,  遺伝子 ,  突然変異 ,  起因 ,  疾患 ,  レビュー