Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial d...
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
About this item
Full title
Author / Creator
Kornblum, Cornelia , Nicholls, Thomas J , Haack, Tobias B , Schöler, Susanne , Peeva, Viktoriya , Danhauser, Katharina , Hallmann, Kerstin , Zsurka, Gábor , Rorbach, Joanna , Iuso, Arcangela , Wieland, Thomas , Sciacco, Monica , Ronchi, Dario , Comi, Giacomo P , Moggio, Maurizio , Quinzii, Catarina M , DiMauro, Salvatore , Calvo, Sarah E , Mootha, Vamsi K , Klopstock, Thomas , Strom, Tim M , Meitinger, Thomas , Minczuk, Michal , Kunz, Wolfram S and Prokisch, Holger
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Michal Minczuk, Wolfram Kunz and colleagues report that loss-of-function mutations in
MGME1
impair mitochondrial DNA replication and cause a multisystemic mitochondrial disease. Their functional studies show that
MGME1
encodes a RecB-type exonuclease that cleaves single-stranded DNA and processes DNA flap substrates.
Known disease me...
Alternative Titles
Full title
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Authors, Artists and Contributors
Author / Creator
Nicholls, Thomas J
Haack, Tobias B
Schöler, Susanne
Peeva, Viktoriya
Danhauser, Katharina
Hallmann, Kerstin
Zsurka, Gábor
Rorbach, Joanna
Iuso, Arcangela
Wieland, Thomas
Sciacco, Monica
Ronchi, Dario
Comi, Giacomo P
Moggio, Maurizio
Quinzii, Catarina M
DiMauro, Salvatore
Calvo, Sarah E
Mootha, Vamsi K
Klopstock, Thomas
Strom, Tim M
Meitinger, Thomas
Minczuk, Michal
Kunz, Wolfram S
Prokisch, Holger
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1291612875
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1291612875
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2501
