List of works - Michał Mińczuk

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

scientific article published on 25 April 2020

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

scientific article published on 17 February 2022

Alternative translation initiation augments the human mitochondrial proteome

scientific journal article

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

scientific article

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

scientific article

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

scientific article published on 19 September 2017

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

scientific article

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

scientific article published on 19 October 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.

scientific article published on 6 December 2006

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

scientific article published on 04 February 2010

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

scientific article published on 2 March 2017

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 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

scientific article published on 01 January 2018

Designer zinc-finger proteins and their applications

scientific article

Detection of 5-formylcytosine in Mitochondrial Transcriptome

scientific article published on 01 January 2021

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

scientific article

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

scientific article published in 2021

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

scientific article

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 ⬇️

scientific article published on January 1, 2010

Engineered mtZFNs for Manipulation of Human Mitochondrial DNA Heteroplasmy

scientific article

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

scientific article published on 01 January 2018

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

scientific article published on 24 September 2018

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

scientific article published on 22 November 2017

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

scientific article

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

scientific article published on 29 March 2016

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

scientific article published on 08 August 2017

Human mitochondrial ribosomes can switch their structural RNA composition.

scientific article published on 11 October 2016

Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria.

scientific article

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

scientific article published on 04 April 2014

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

scientific article

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

scientific article published on 30 April 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 November 2019

MPV17L2 is required for ribosome assembly in mitochondria

scientific article

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

scientific article

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

scientific article published on 10 October 2017

Maturation of selected human mitochondrial tRNAs requires deadenylation.

scientific article

Mechanisms of Mitochondrial DNA Deletion Formation

scientific article published on 25 January 2019

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Mitochondria: mitochondrial RNA metabolism and human disease

scientific article published on 17 January 2013

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

scientific article published on 24 November 2017

Mitochondrial transcript maturation and its disorders

scientific article published on 28 May 2015

Mitochondrial transcription and translation: overview.

scientific article published on 20 July 2018

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

scientific article published on 24 February 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

scientific article

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

scientific article published on 18 March 2015

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

scientific article published on 31 January 2018

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

scientific article published in February 2018

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs

scientific article published on 01 September 2019

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

scientific article

New insights into the phenotype of FARS2 deficiency

scientific article published on 12 October 2017

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

scientific article published on 10 March 2015

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

scientific article published in November 2002

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

scientific article

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

scientific article published in Nature Communications

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

scientific article published on October 2003

RNA degradation in yeast and human mitochondria

scientific article published in January 2004

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

scientific article published on 9 March 2017

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

scholarly article

TEFM (c17orf42) is necessary for transcription of human mtDNA

scientific article

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

scientific article published on 17 January 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

scientific article published on 02 July 2016

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

scientific article

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

scientific article published on 12 January 2017

The mammalian mitochondrial epitranscriptome

scientific article published on 04 December 2018

The post-transcriptional life of mammalian mitochondrial RNA.

scientific article published on June 2012

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

scientific article published on 01 July 2019

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

scientific article

Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective

scientific article published on 26 March 2020

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

scientific article published in February 2015

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 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

scientific article published on 01 June 2021

List of works by Michał Mińczuk

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