List of works - Johannes N Spelbrink

Premature ageing in mice expressing defective mitochondrial DNA polymerase

scientific article

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

scientific article (publication date: July 2001)

What causes mitochondrial DNA deletions in human cells?

scientific article published on March 2008

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

scientific article

Composition and dynamics of human mitochondrial nucleoids

scientific article

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

scientific article

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 22 April 2007

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

scientific article

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

scientific article published on January 2010

The human SIRT3 protein deacetylase is exclusively mitochondrial

scientific article published on April 2008

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

scientific article

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

article

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

scientific article

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

scientific article published on 4 July 2007

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

scientific article

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

scientific article published on 5 September 2008

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

scientific article

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

scientific article published on 01 November 2000

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 October 2013

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

scientific article

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

scientific article

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

scientific article published on 27 March 2002

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

scientific article published on 25 September 2013

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

scientific article (publication date: 2013)

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

scientific article

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

scientific article published on 01 May 1996

The hexameric structure of the human mitochondrial replicative helicase Twinkle.

scientific article published on 30 March 2015

Mytoe: automatic analysis of mitochondrial dynamics.

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 March 1995

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

scientific article

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

scientific article published on November 1994

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

scientific article published in February 1999

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

scientific article

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

scientific article published on 20 April 2011

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

scientific article published on September 1992

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

scientific article published on August 1997

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

scientific article published on 5 April 2003

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

scientific article published on 01 March 1998

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

scientific article published on 25 April 2017

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

scientific article published in January 2007

List of works by Johannes N Spelbrink

Premature ageing in mice expressing defective mitochondrial DNA polymerase

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

What causes mitochondrial DNA deletions in human cells?

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

Composition and dynamics of human mitochondrial nucleoids

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

Human Dna2 is a nuclear and mitochondrial DNA maintenance protein

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

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

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

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

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

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

The human SIRT3 protein deacetylase is exclusively mitochondrial

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

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

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

Mammalian mitochondrial nucleoids: organizing an independently minded genome.

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

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

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

Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states

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

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

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

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

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

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

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

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

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

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

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

The hexameric structure of the human mitochondrial replicative helicase Twinkle.

Mytoe: automatic analysis of mitochondrial dynamics.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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