Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Nature Genetics

Volumn 45, Issue 2, 2013, Pages 214-219

  Kornblum, Cornelia ^a   Nicholls, Thomas J ^b   Haack, Tobias B ^c   Schöler, Susanne ^a   Peeva, Viktoriya ^a   Danhauser, Katharina ^c   Hallmann, Kerstin ^a   Zsurka, Gábor ^a   Rorbach, Joanna ^b   Iuso, Arcangela ^c   Wieland, Thomas ^c   Sciacco, Monica ^a   Ronchi, Dario ^d   Comi, Giacomo P ^d   Moggio, Maurizio ^d   Quinzii, Catarina M ^e   Dimauro, Salvatore ^e   Calvo, Sarah E ^f,g,h   Mootha, Vamsi K ^f,g,h   Klopstock, Thomas ⁱ   Strom, Tim M ^c   Meitinger, Thomas ^c   Minczuk, Michal ^b   Kunz, Wolfram S ^a   Prokisch, Holger ^b   more..

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b MEDICAL RESEARCH COUNCIL   (United Kingdom)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF MILAN   (Italy)

^e NewYork Presbyterian Hospital   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EXONUCLEASE; MITOCHONDRIAL GENOME MAINTENANCE EXONUCLEASE 1; SINGLE STRANDED DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTERNAL OPHTHALMOPLEGIA; FEMALE; FIBROBLAST; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRIAL GENOME; MITOCHONDRIAL TARGETING SIGNAL; MUSCLE BIOPSY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN LOCALIZATION; RESPIRATORY FAILURE; SCHOOL CHILD; WEIGHT REDUCTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CLONING, MOLECULAR; CODON, NONSENSE; DNA PRIMERS; DNA REPLICATION; DNA, MITOCHONDRIAL; EXODEOXYRIBONUCLEASES; GENE COMPONENTS; HELA CELLS; HUMANS; MITOCHONDRIAL DISEASES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; SEQUENCE ANALYSIS, DNA;

EID: 84873087072     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2501     Document Type: Article

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