List of works - Gábor Zsurka

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

scientific article published on 31 October 2014

Clonal expansion of different mtDNA variants without selective advantage in solid tumors

scientific article published on 9 December 2008

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

scientific article published on 01 April 2008

Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death

scientific journal article

Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans

scientific article

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

scientific article published on 25 February 2019

Familial mitochondrial tubulointerstitial nephropathy.

scientific article published in March 1999

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

scientific article

Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?

scientific article published on 21 March 2018

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

scientific article published on 30 April 2018

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

scientific article

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

scientific article

Mitochondrial DNA damage and the aging process: facts and imaginations.

scientific article published on December 2006

Mitochondrial dysfunction and seizures: the neuronal energy crisis

scientific article published on September 2015

Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

scientific article published on December 2010

Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

scientific article published on 01 April 1997

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

scientific article published on 28 August 2012

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

scientific article

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

scientific article published on 16 April 2013

No mitochondrial haplotype was found to increase risk for Alzheimer's disease.

scientific article published in September 1998

Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes

scientific article published in November 2014

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

scientific article published on 17 July 2005

Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.

scientific article

Replication fork rescue in mammalian mitochondria.

scientific article published on 19 June 2019

Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

scientific article published on 30 January 2019

The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter

scientific journal article

The mitochondrial inner membrane protein Lpe10p, a homologue of Mrs2p, is essential for magnesium homeostasis and group II intron splicing in yeast.

scientific article

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.

scientific article published in December 2004

List of works by Gábor Zsurka

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Clonal expansion of different mtDNA variants without selective advantage in solid tumors

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death

Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

Familial mitochondrial tubulointerstitial nephropathy.

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

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

Mitochondrial DNA damage and the aging process: facts and imaginations.

Mitochondrial dysfunction and seizures: the neuronal energy crisis

Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

No mitochondrial haplotype was found to increase risk for Alzheimer's disease.

Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.

Replication fork rescue in mammalian mitochondria.

Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter

The mitochondrial inner membrane protein Lpe10p, a homologue of Mrs2p, is essential for magnesium homeostasis and group II intron splicing in yeast.

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.