Lista de obras - Ian Holt - Dominio Público Uruguay

163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

artículo científico publicado en 2009

A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties

artículo científico publicado en 2013

A robust assay to measure DNA topology-dependent protein binding affinity.

artículo científico publicado en 2014

A tRNA suppressor mutation in human mitochondria

scientific article published on 01 April 1998

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

artículo científico publicado en 2017

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

artículo científico publicado en 2017

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

artículo científico publicado en 2006

Actin and myosin contribute to mammalian mitochondrial DNA maintenance.

artículo científico publicado en 2011

Alternative translation initiation augments the human mitochondrial proteome

scientific journal article

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

artículo científico publicado en 2014

An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1

artículo científico publicado en 2010

Analysis of Replicating Mitochondrial DNA by In Organello Labeling and Two-Dimensional Agarose Gel Electrophoresis

artículo científico publicado en 2016

Analysis of mitochondrial DNA by two-dimensional agarose gel electrophoresis

artículo científico publicado en 2009

Analysis of replicating mitochondrial DNA by two-dimensional agarose gel electrophoresis

artículo científico publicado en 2007

Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background

scientific article published on 01 August 1997

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

artículo científico publicado en 2002

Bidirectional replication initiates at sites throughout the mitochondrial genome of birds

artículo científico publicado en 2004

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

artículo científico publicado en 1990

Blue Native electrophoresis to study mitochondrial and other protein complexes

artículo científico publicado en 2002

Characterizing the mitochondrial DNA polymerase gamma interactome by BioID identifies Ruvbl2 localizes to the mitochondria.

artículo científico publicado en 2016

Clinical and molecular aspects of diseases of mitochondrial DNA instability.

artículo científico publicado en 2009

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

artículo científico publicado en 1996

Corrigendum: Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

artículo científico publicado en 2015

Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.

artículo científico publicado en 2007

Deletions of muscle mitochondrial DNA

artículo científico publicado en 1988

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

artículo científico publicado en 1988

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

artículo científico publicado en 1995

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

artículo científico publicado en 1996

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

artículo científico publicado en 2012

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

artículo científico publicado en 1992

Expression of algal nuclear ATP synthase subunit 6 in human cells results in protein targeting to mitochondria but no assembly into ATP synthase

artículo científico publicado en 2006

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

artículo científico publicado en 1989

Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit.

artículo científico publicado en 2012

Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

artículo científico publicado en 2015

Human mitochondrial DNA replication

artículo científico publicado en 2012

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

scientific article published on 01 November 2000

Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria

artículo científico publicado en 2012

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

artículo científico publicado en 1999

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

artículo científico publicado en 2016

MPV17L2 is required for ribosome assembly in mitochondria

artículo científico publicado en 2014

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone

artículo científico publicado en 2003

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

artículo científico publicado en 2010

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

artículo científico publicado en 2007

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

scientific article published on 01 October 1993

Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA.

artículo científico publicado en 2009

Minimizing the damage: repair pathways keep mitochondrial DNA intact

artículo científico publicado en 2012

Mitochondrial DNA analysis in Parkinson's disease

scientific article published on 01 January 1990

Mitochondrial DNA replication and repair: all a flap

scientific article published on 24 June 2009

Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts

artículo científico publicado en 2013

Mitochondrial DNA: does more lead to less?

scientific article published on 01 December 1994

Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication

scientific article published on 01 January 2010

Mitochondrial myopathies

artículo científico publicado en 1989

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

scientific article published on 01 December 1989

Mitochondrial myopathies: clinical defects

artículo científico publicado en 1990

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.

artículo científico publicado en 2012

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

artículo científico publicado en 2016

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation

artículo científico publicado en 1998

Mitochondrial transcription terminator family members mTTF and mTerf5 have opposing roles in coordination of mtDNA synthesis

artículo científico publicado en 2013

Molecular genetics of amyloid neuropathy in Europe

scientific article published on 01 March 1989

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

artículo científico publicado en 1997

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

artículo científico publicado en 1993

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

scientific article published on 21 August 2019

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

artículo científico publicado en 2016

Prenatal diagnosis of mitochondrial DNA8993 T----G disease ⬇️

artículo científico publicado el 1 de marzo de 1992

PrimPol, an archaic primase/polymerase operating in human cells

artículo científico publicado en 2013

Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication

artículo científico publicado en 2015

Prominent mitochondrial DNA recombination intermediates in human heart muscle.

artículo científico publicado en 2001

Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand.

artículo científico publicado en 2006

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

artículo científico publicado en 2019

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

artículo científico publicado en 2017

Response: The mitochondrial DNA replication bubble has not burst

scientific article published on 01 July 2003

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis

artículo científico publicado en 2000

Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids.

artículo científico publicado en 2005

TEFM (c17orf42) is necessary for transcription of human mtDNA

artículo científico publicado en 2011

The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization.

artículo científico publicado en 2007

The Jekyll and Hyde character of RNase H1 and its multiple roles in mitochondrial DNA metabolism

artículo científico publicado en 2019

The conserved translocase Tim17 prevents mitochondrial DNA loss

artículo científico publicado en 2009

The mitochondrial R-loop.

artículo científico publicado en 2019

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

artículo científico publicado en 1990

The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't.

artículo científico publicado en 2000

The road to rack and ruin: selecting deleterious mitochondrial DNA variants

artículo científico publicado en 2014

Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication

scientific article published on 01 November 2018

Transmission of mitochondrial DNA diseases and ways to prevent them.

artículo científico publicado en 2010

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

artículo científico publicado en 2004

Unique features of DNA replication in mitochondria: a functional and evolutionary perspective

artículo científico publicado en 2014

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

artículo científico publicado en 2005

Zen and the art of mitochondrial DNA maintenance

artículo científico publicado en 2010

Lista de obras de Ian Holt

163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands.

A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties

A robust assay to measure DNA topology-dependent protein binding affinity.

A tRNA suppressor mutation in human mitochondria

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.

Actin and myosin contribute to mammalian mitochondrial DNA maintenance.

Alternative translation initiation augments the human mitochondrial proteome

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1

Analysis of Replicating Mitochondrial DNA by In Organello Labeling and Two-Dimensional Agarose Gel Electrophoresis

Analysis of mitochondrial DNA by two-dimensional agarose gel electrophoresis

Analysis of replicating mitochondrial DNA by two-dimensional agarose gel electrophoresis

Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background

Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.

Bidirectional replication initiates at sites throughout the mitochondrial genome of birds

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

Blue Native electrophoresis to study mitochondrial and other protein complexes

Characterizing the mitochondrial DNA polymerase gamma interactome by BioID identifies Ruvbl2 localizes to the mitochondria.

Clinical and molecular aspects of diseases of mitochondrial DNA instability.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids

Corrigendum: Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.

Deletions of muscle mitochondrial DNA

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes.

Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease?

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

Expression of algal nuclear ATP synthase subunit 6 in human cells results in protein targeting to mitochondria but no assembly into ATP synthase

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit.

Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

Human mitochondrial DNA replication

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria

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

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

MPV17L2 is required for ribosome assembly in mitochondria

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone

Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus

Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA.

Minimizing the damage: repair pathways keep mitochondrial DNA intact

Mitochondrial DNA analysis in Parkinson's disease

Mitochondrial DNA replication and repair: all a flap

Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts

Mitochondrial DNA: does more lead to less?

Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication

Mitochondrial myopathies

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

Mitochondrial myopathies: clinical defects

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation

Mitochondrial transcription terminator family members mTTF and mTerf5 have opposing roles in coordination of mtDNA synthesis

Molecular genetics of amyloid neuropathy in Europe

Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

Prenatal diagnosis of mitochondrial DNA8993 T----G disease ⬇️

PrimPol, an archaic primase/polymerase operating in human cells

Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication

Prominent mitochondrial DNA recombination intermediates in human heart muscle.

Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand.

Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion"

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Response: The mitochondrial DNA replication bubble has not burst

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis

Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids.

TEFM (c17orf42) is necessary for transcription of human mtDNA

The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization.

The Jekyll and Hyde character of RNase H1 and its multiple roles in mitochondrial DNA metabolism

The conserved translocase Tim17 prevents mitochondrial DNA loss