Lista de obras - Michal Minczuk - Dominio Público Uruguay

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

artículo científico publicado en 2020

A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

artículo científico

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

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

artículo científico publicado en 2017

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

artículo científico publicado en 2012

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

artículo científico publicado en 2015

Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

scientific article published on 15 January 2020

Chimeric DNA methyltransferases target DNA methylation to specific DNA sequences and repress expression of target genes.

artículo científico publicado en 2006

Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA

artículo científico publicado en 2010

Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.

artículo científico publicado en 2017

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

artículo científico publicado en 2017

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

scientific journal article

Delivery of mtZFNs into Early Mouse Embryos

artículo científico publicado en 2018

Designer zinc-finger proteins and their applications

artículo científico publicado en 2006

Detection of 5-formylcytosine in Mitochondrial Transcriptome

artículo científico publicado en 2021

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA.

artículo científico publicado en 2008

Duplexing complexome profiling with SILAC to study human respiratory chain assembly defects

artículo científico publicado en 2021

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

EXD2 Protects Stressed Replication Forks and Is Required for Cell Viability in the Absence of BRCA1/2

scientific article published on 26 June 2019

Elongational stalling activates mitoribosome-associated quality control

scientific article published on 01 November 2020

Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations

scientific article published on 26 June 2019

Engineered Zinc Finger Proteins for Manipulation of the Human Mitochondrial Genome ⬇️

artículo científico publicado el 1 de enero de 2010

Engineered mtZFNs for Manipulation of Human Mitochondrial DNA Heteroplasmy

artículo científico publicado en 2016

Enhanced Manipulation of Human Mitochondrial DNA Heteroplasmy In Vitro Using Tunable mtZFN Technology

artículo científico publicado en 2018

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

artículo científico publicado en 2018

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

artículo científico publicado en 2017

Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP.

artículo científico publicado en 2005

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

artículo científico publicado en 2016

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?

artículo científico

Human mitochondrial ribosomes can switch their structural RNA composition.

artículo científico publicado en 2016

Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria.

artículo científico publicado en 2003

In D-loop: 40 years of mitochondrial 7S DNA.

artículo científico publicado en 2014

Inhibition of herpes simplex virus 1 gene expression by designer zinc-finger transcription factors

artículo científico publicado en 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA

artículo científico publicado en 2002

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

artículo científico publicado en 2013

METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis

artículo científico publicado en 2019

MPV17L2 is required for ribosome assembly in mitochondria

artículo científico publicado en 2014

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

artículo científico publicado en 2014

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

artículo científico publicado en 2017

Maturation of selected human mitochondrial tRNAs requires deadenylation.

artículo científico publicado en 2017

Mechanisms of Mitochondrial DNA Deletion Formation

scientific article published on 25 January 2019

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

Mitochondria: Mitochondrial RNA metabolism and human disease ⬇️

artículo científico publicado el 17 de enero de 2013

Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized

artículo científico publicado en 2017

Mitochondrial transcript maturation and its disorders

artículo científico publicado en 2015

Mitochondrial transcription and translation: overview.

artículo científico publicado en 2018

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

artículo científico publicado en 2014

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

scientific article published on 23 July 2019

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

artículo científico publicado en 2015

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria

artículo científico publicado en 2018

NADH Shuttling Couples Cytosolic Reductive Carboxylation of Glutamine with Glycolysis in Cells with Mitochondrial Dysfunction.

artículo científico publicado en 2018

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

artículo científico publicado en 2019

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

artículo científico publicado en 2016

New insights into the phenotype of FARS2 deficiency

artículo científico publicado en 2017

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

artículo científico

Overexpressed yeast mitochondrial putative RNA helicase Mss116 partially restores proper mtRNA metabolism in strains lacking the Suv3 mtRNA helicase

artículo científico publicado en 2002

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

artículo científico publicado en 2011

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

artículo científico publicado en 2018

Polyadenylation in Bacteria and Organelles

article by Joanna Rorbach et al published 2014 in Methods in Molecular Biology

Potent inhibition of NTPase/helicase of the West Nile Virus by ring-expanded ("fat") nucleoside analogues

artículo científico publicado en 2003

RNA degradation in yeast and human mitochondria

artículo científico publicado en 2004

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

artículo científico publicado en 2017

Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase

artículo científico publicado en 2006

TEFM (c17orf42) is necessary for transcription of human mtDNA

artículo científico publicado en 2011

TRMT2B is responsible for both tRNA and rRNA m5U-methylation in human mitochondria

artículo científico publicado en 2020

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

TRNT1 deficiency: clinical, biochemical and molecular genetic features

artículo científico publicado en 2016

The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing.

artículo científico publicado en 2005

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

artículo científico publicado en 2017

The mammalian mitochondrial epitranscriptome

artículo científico publicado en 2019

The post-transcriptional life of mammalian mitochondrial RNA.

artículo científico

The structure of human EXD2 reveals a chimeric 3' to 5' exonuclease domain that discriminates substrates via metal coordination

artículo científico publicado en 2019

The yeast mitochondrial degradosome. Its composition, interplay between RNA helicase and RNase activities and the role in mitochondrial RNA metabolism

artículo científico publicado en 2003

Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective

artículo científico publicado en 2020

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

artículo científico publicado en 2015

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

scientific article published on 01 December 2018

YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria

artículo científico publicado en 2021

Lista de obras de Michal Minczuk

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

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

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

Chimeric DNA methyltransferases target DNA methylation to specific DNA sequences and repress expression of target genes.

Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA

Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Delivery of mtZFNs into Early Mouse Embryos

Designer zinc-finger proteins and their applications

Detection of 5-formylcytosine in Mitochondrial Transcriptome

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA.

Duplexing complexome profiling with SILAC to study human respiratory chain assembly defects

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

EXD2 Protects Stressed Replication Forks and Is Required for Cell Viability in the Absence of BRCA1/2

Elongational stalling activates mitoribosome-associated quality control

Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations

Engineered Zinc Finger Proteins for Manipulation of the Human Mitochondrial Genome ⬇️

Engineered mtZFNs for Manipulation of Human Mitochondrial DNA Heteroplasmy

Enhanced Manipulation of Human Mitochondrial DNA Heteroplasmy In Vitro Using Tunable mtZFN Technology

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP.

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?

Human mitochondrial ribosomes can switch their structural RNA composition.

Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria.

In D-loop: 40 years of mitochondrial 7S DNA.

Inhibition of herpes simplex virus 1 gene expression by designer zinc-finger transcription factors

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

Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA

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

METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis

MPV17L2 is required for ribosome assembly in mitochondria

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

Maturation of selected human mitochondrial tRNAs requires deadenylation.

Mechanisms of Mitochondrial DNA Deletion Formation

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Mitochondria: Mitochondrial RNA metabolism and human disease ⬇️

Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized

Mitochondrial transcript maturation and its disorders

Mitochondrial transcription and translation: overview.

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria

NADH Shuttling Couples Cytosolic Reductive Carboxylation of Glutamine with Glycolysis in Cells with Mitochondrial Dysfunction.

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

New insights into the phenotype of FARS2 deficiency

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

Overexpressed yeast mitochondrial putative RNA helicase Mss116 partially restores proper mtRNA metabolism in strains lacking the Suv3 mtRNA helicase

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Polyadenylation in Bacteria and Organelles

Potent inhibition of NTPase/helicase of the West Nile Virus by ring-expanded ("fat") nucleoside analogues

RNA degradation in yeast and human mitochondria

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase

TEFM (c17orf42) is necessary for transcription of human mtDNA

TRMT2B is responsible for both tRNA and rRNA m5U-methylation in human mitochondria

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

TRNT1 deficiency: clinical, biochemical and molecular genetic features

The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing.

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

The mammalian mitochondrial epitranscriptome

The post-transcriptional life of mammalian mitochondrial RNA.

The structure of human EXD2 reveals a chimeric 3' to 5' exonuclease domain that discriminates substrates via metal coordination