MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Nature Genetics

Volumn 38, Issue 5, 2006, Pages 570-576

  Spinazzola, Antonella ^a   Viscomi, Carlo ^a   Fernandez Vizarra, Erika ^a   Carrara, Franco ^a   D'Adamo, Pio ^b   Calvo, Sarah ^c,d,e   Marsano, René Massimiliano ^f   Donnini, Claudia ^f   Weiher, Hans ^g   Strisciuglio, Pietro ^h   Parini, Rossella ⁱ   Sarzi, Emmanuelle ^j   Chan, Alicia ^k   DiMauro, Salvatore ^l   Rötig, Agnes ^j   Gasparini, Paolo ^b,m   Ferrero, Iliana ^f   Mootha, Vamsi K ^c,d,e   Tiranti, Valeria ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e HARVARD UNIVERSITY   (United States)

^f UNIVERSITY OF PARMA   (Italy)

^g BONN RHEIN SIEG UNIVERSITY OF APPLIED SCIENCES   (Germany)

^h UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

ⁱ UNIVERSITY OF MILANO BICOCCA   (Italy)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k UNIVERSITY OF ALBERTA   (Canada)

^l New York Presbyterian Columbia University Medical Center   (United States)

^m UNIVERSITY OF TRIESTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MITOCHONDRIAL DNA; PROTEIN MPV17; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 2P; CONTROLLED STUDY; DGUOK GENE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LINKAGE ANALYSIS; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOUSE; MPV17; NONHUMAN; OXIDATIVE PHOSPHORYLATION; POLG GENE; PRIORITY JOURNAL; SUCLA2 GENE; TK2 GENE;

AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 2; CLONING, MOLECULAR; DNA, MITOCHONDRIAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INTRACELLULAR MEMBRANES; LIVER DISEASES; MALE; MEMBRANE PROTEINS; MICE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SYNDROME;

ANIMALIA;

EID: 33646376465     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1765     Document Type: Article

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