Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human ° cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA

By Vergani L.   Rossi R.   Brierley C. H.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1751-1755

Oxford University Press

Access to resources Recommend Favorite

Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids

By D'Aurelio Marilena   Gajewski Carl D.   Lenaz Giorgio   Manfredi Giovanni  

Human Molecular Genetics, Vol. 15, Iss. 13, 2006-07 ,pp. : 2157-2169

Oxford University Press

Access to resources Recommend Favorite

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

By Goffart Steffi   Cooper Helen M.   Tyynismaa Henna   Wanrooij Sjoerd   Suomalainen Anu   Spelbrink Johannes N.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 328-340

Oxford University Press

Access to resources Recommend Favorite

A Novel Heteroplasmic tRNA leu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy

By Fu Katherine   Hartlen Rebecca   Johns Timothy   Genge Angela   Karpati George   Shoubridge Eric A.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1835-1840

Oxford University Press

Access to resources Recommend Favorite

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

By Milenkovic Dusanka   Matic Stanka   Kühl Inge   Ruzzenente Benedetta   Freyer Christoph   Jemt Elisabeth   Park Chan Bae   Falkenberg Maria   Larsson Nils-Göran  

Human Molecular Genetics, Vol. 22, Iss. 10, 2013-05 ,pp. : 1983-1993

Oxford University Press

Access to resources Recommend Favorite