Lista de obras - Johannes N Spelbrink - Dominio Público Uruguay

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

artículo científico publicado en 2017

A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

artículo científico publicado en 2013

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

artículo científico publicado en 1999

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

Composition and dynamics of human mitochondrial nucleoids

artículo científico publicado en 2003

DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase

artículo científico publicado en 2014

Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

artículo científico publicado en 1996

Ditercalinium chloride, a pro-anticancer drug, intimately associates with mammalian mitochondrial DNA and inhibits its replication

artículo científico publicado en 2003

Expression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene products

artículo científico publicado en 1995

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

artículo científico publicado en 2007

Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation.

artículo científico publicado en 1999

Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

artículo científico publicado en 1998

Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family

artículo científico publicado en 1996

Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges.

artículo científico publicado en 2010

Heteroplasmic segregation associated with trisomy-9 in cultured human cells.

artículo científico publicado en 1999

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

artículo científico publicado en 2001

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

scientific article published on 01 November 2000

Inducible expression in human cells, purification, and in vitro assays for the mitochondrial DNA helicase Twinkle

artículo científico publicado en 2009

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

artículo científico publicado en 2005

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

artículo científico publicado en 2008

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

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

artículo científico publicado en 2005

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

artículo científico publicado en 2002

Mytoe: automatic analysis of mitochondrial dynamics.

artículo científico publicado en 2012

Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells

artículo científico publicado en 1997

Premature ageing in mice expressing defective mitochondrial DNA polymerase

artículo científico publicado en 2004

Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?

artículo científico publicado en 2014

RNA Crosslinking to Analyze the Mitochondrial RNA-Binding Proteome

artículo científico publicado en 2021

Relationship between culture conditions and the dependency on mitochondrial function of mammalian cell proliferation

artículo científico publicado en 1992

Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication

artículo científico publicado en 2013

Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.

artículo científico publicado en 2011

TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions

artículo científico publicado en 2015

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

artículo científico publicado en 2002

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

artículo científico publicado en 2007

The V368i mutation in Twinkle does not segregate with AdPEO

artículo científico publicado en 2003

The hexameric structure of the human mitochondrial replicative helicase Twinkle.

artículo científico publicado en 2015

The human SIRT3 protein deacetylase is exclusively mitochondrial

artículo científico publicado en 2008

The mitochondria of cultured mammalian cells: I. Analysis by immunofluorescence microscopy, histochemistry, subcellular fractionation, and cell fusion.

artículo científico publicado en 2007

The mitochondria of cultured mammalian cells: II. Expression and visualization of exogenous proteins in fixed and live cells

artículo científico publicado en 2007

The mitochondrial outer-membrane location of the EXD2 exonuclease contradicts its direct role in nuclear DNA repair.

artículo científico publicado en 2018

The multikinase inhibitor Sorafenib enhances glycolysis and synergizes with glycolysis blockade for cancer cell killing.

artículo científico publicado en 2015

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion

artículo científico publicado en 1994

Tid1 isoforms are mitochondrial DnaJ-like chaperones with unique carboxyl termini that determine cytosolic fate

artículo científico publicado en 2006

To be or not to be a nucleoid protein: a comparison of mass-spectrometry based approaches in the identification of potential mtDNA-nucleoid associated proteins

artículo científico

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

scientific article published on 01 November 2018

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

artículo científico publicado en 2004

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

artículo científico publicado en 2004

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

article

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

artículo científico publicado en 2009

What causes mitochondrial DNA deletions in human cells?

artículo científico publicado en 2008

What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations.

artículo científico publicado en 2014

Whole cell formaldehyde cross-linking simplifies purification of mitochondrial nucleoids and associated proteins involved in mitochondrial gene expression

artículo científico publicado en 2015

Lista de obras de Johannes N Spelbrink

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein

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

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Composition and dynamics of human mitochondrial nucleoids

DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase

Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

Ditercalinium chloride, a pro-anticancer drug, intimately associates with mammalian mitochondrial DNA and inhibits its replication

Expression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene products

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation.

Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes

Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family

Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges.

Heteroplasmic segregation associated with trisomy-9 in cultured human cells.

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

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

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

Inducible expression in human cells, purification, and in vitro assays for the mitochondrial DNA helicase Twinkle

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

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

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Mytoe: automatic analysis of mitochondrial dynamics.

Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?

RNA Crosslinking to Analyze the Mitochondrial RNA-Binding Proteome

Relationship between culture conditions and the dependency on mitochondrial function of mammalian cell proliferation

Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication

Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.

TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover

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

The V368i mutation in Twinkle does not segregate with AdPEO

The hexameric structure of the human mitochondrial replicative helicase Twinkle.

The human SIRT3 protein deacetylase is exclusively mitochondrial

The mitochondria of cultured mammalian cells: I. Analysis by immunofluorescence microscopy, histochemistry, subcellular fractionation, and cell fusion.

The mitochondria of cultured mammalian cells: II. Expression and visualization of exogenous proteins in fixed and live cells

The mitochondrial outer-membrane location of the EXD2 exonuclease contradicts its direct role in nuclear DNA repair.

The multikinase inhibitor Sorafenib enhances glycolysis and synergizes with glycolysis blockade for cancer cell killing.

The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion

Tid1 isoforms are mitochondrial DnaJ-like chaperones with unique carboxyl termini that determine cytosolic fate

To be or not to be a nucleoid protein: a comparison of mass-spectrometry based approaches in the identification of potential mtDNA-nucleoid associated proteins

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

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

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

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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

What causes mitochondrial DNA deletions in human cells?

What cost mitochondria? The maintenance of functional mitochondrial DNA within and across generations.

Whole cell formaldehyde cross-linking simplifies purification of mitochondrial nucleoids and associated proteins involved in mitochondrial gene expression