Lista de obras - Jan Taanman - Dominio Público Uruguay

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

artículo científico publicado en 2016

A LON-ClpP Proteolytic Axis Degrades Complex I to Extinguish ROS Production in Depolarized Mitochondria.

artículo científico publicado en 2016

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

artículo científico publicado en 2001

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

scientific journal article

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

artículo científico publicado en 2001

A nuclear modifier for a mitochondrial DNA disorder.

artículo científico publicado en 2001

Altered gene expression and functions of mitochondria in human nephrotic syndrome

artículo científico publicado en 1999

Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents.

artículo científico publicado en 2005

Biochemical abnormalities and excitotoxicity in Huntington's disease brain.

artículo científico publicado en 1999

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

scientific article published on 01 September 1999

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

artículo científico publicado en 2013

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

scientific article published on 11 September 2009

Comment on "aneurysmal lesions of patients with abdominal aortic aneurysm contain clonally expanded T cells"

scientific article published on 01 September 2014

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

artículo científico publicado en 2012

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

scientific article published on 01 April 2019

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

artículo científico publicado en 1998

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

artículo científico publicado en 2000

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

artículo científico publicado en 2017

Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change?

artículo científico publicado en 1999

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.

artículo científico publicado en 2009

Does doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?

artículo científico publicado en 2009

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

artículo científico publicado en 2006

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mt

artículo científico publicado en 1997

Human cytochrome c oxidase: structure, function, and deficiency.

artículo científico publicado en 1997

Huntingtin Aggregates and Mitochondrial Pathology in Skeletal Muscle but not Heart of Late-Stage R6/2 Mice

artículo científico publicado en 2019

Identification of three human pseudogenes for subunit Vlb of cytochrome c oxidase: a molecular record of gene evolution ⬇️

artículo científico publicado el 30 de junio de 1991

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

scientific article published on 01 August 2001

Influence of zinc and zinc chelator on HT-29 colorectal cell line.

artículo científico publicado en 2010

Liver failure associated with mitochondrial DNA depletion

scientific article published on 01 April 1998

Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells

artículo científico publicado en 1995

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

artículo científico publicado en 1999

Mitochondrial dysfunction in congenital nephrotic syndrome

artículo científico publicado en 2000

Molecular mechanisms in mitochondrial DNA depletion syndrome

artículo científico publicado en 1997

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

artículo científico publicado en 2005

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene

artículo científico publicado en 2007

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.

artículo científico publicado en 2018

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

artículo científico publicado en 2013

Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase

artículo científico publicado en 1989

Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

scientific journal article

Purification of yeast cytochrome c oxidase with a subunit composition resembling the mammalian enzyme.

artículo científico publicado en 1992

Regulation of cytochrome c oxidase by interaction of ATP at two binding sites, one on subunit VIa

scientific article published on 01 October 1994

Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues

scientific article published on 01 September 1993

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

artículo científico publicado en 1998

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

scientific journal article

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

artículo científico publicado en 2018

Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms

artículo científico publicado el 9 de junio de 1992

Subunit composition of respiratory chain complex 1 and its responses to oxygen in mitochondria from human donor livers.

artículo científico publicado en 2017

TRNT1 deficiency: clinical, biochemical and molecular genetic features

artículo científico publicado en 2016

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

artículo científico publicado en 2017

Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts

artículo científico publicado en 1987

Lista de obras de Jan Taanman

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

A LON-ClpP Proteolytic Axis Degrades Complex I to Extinguish ROS Production in Depolarized Mitochondria.

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

A nuclear modifier for a mitochondrial DNA disorder.

Altered gene expression and functions of mitochondria in human nephrotic syndrome

Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents.

Biochemical abnormalities and excitotoxicity in Huntington's disease brain.

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Comment on "aneurysmal lesions of patients with abdominal aortic aneurysm contain clonally expanded T cells"

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: a nonspecific change?

Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.

Does doxycycline work in synergy with cisplatin and oxaliplatin in colorectal cancer?

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mt

Human cytochrome c oxidase: structure, function, and deficiency.

Huntingtin Aggregates and Mitochondrial Pathology in Skeletal Muscle but not Heart of Late-Stage R6/2 Mice

Identification of three human pseudogenes for subunit Vlb of cytochrome c oxidase: a molecular record of gene evolution ⬇️

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

Influence of zinc and zinc chelator on HT-29 colorectal cell line.

Liver failure associated with mitochondrial DNA depletion

Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

Mitochondrial dysfunction in congenital nephrotic syndrome

Molecular mechanisms in mitochondrial DNA depletion syndrome

Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells.

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene

NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit.

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease.

Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase

Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation

Purification of yeast cytochrome c oxidase with a subunit composition resembling the mammalian enzyme.

Regulation of cytochrome c oxidase by interaction of ATP at two binding sites, one on subunit VIa

Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues

SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms

Subunit composition of respiratory chain complex 1 and its responses to oxygen in mitochondria from human donor livers.

TRNT1 deficiency: clinical, biochemical and molecular genetic features

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts