Michal A. Minczuk

Hills Road
Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 99 publications

Emerging therapeutic strategies for mitochondrial DNA-related diseases.

Emerging therapeutic strategies for mitochondrial DNA-related diseases.

Journal: Cell reports. Medicine

Published: November 07, 2025

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization.

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization.

Journal: Research involvement and engagement

Published: August 15, 2025

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

Journal: Investigative ophthalmology & visual science

Published: June 04, 2025

An inherited mitochondrial DNA mutation remodels inflammatory cytokine responses in macrophages and in vivo in mice.

An inherited mitochondrial DNA mutation remodels inflammatory cytokine responses in macrophages and in vivo in mice.

Journal: Nature communications

Published: January 15, 2025

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.

The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.

Journal: Nucleic acids research

Published: November 12, 2024

Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture.

Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture.

Journal: EMBO molecular medicine

Published: October 08, 2024

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

Journal: Nature communications

Published: August 26, 2024

The catalytic activity of methyltransferase METTL15 is dispensable for its role in mitochondrial ribosome biogenesis.

The catalytic activity of methyltransferase METTL15 is dispensable for its role in mitochondrial ribosome biogenesis.

Journal: RNA biology

Published: June 24, 2024

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Journal: EMBO molecular medicine

Published: April 05, 2024

GTPBP8 plays a role in mitoribosome formation in human mitochondria.

GTPBP8 plays a role in mitoribosome formation in human mitochondria.

Journal: Nature communications

Published: August 23, 2023

Gene therapy for mitochondrial disorders.

Gene therapy for mitochondrial disorders.

Journal: Journal of inherited metabolic disease

Published: August 20, 2023

mtFociCounter for automated single-cell mitochondrial nucleoid quantification and reproducible foci analysis.

mtFociCounter for automated single-cell mitochondrial nucleoid quantification and reproducible foci analysis.

Journal: Nucleic acids research

Published: May 16, 2023

Showing 1-12 of 99

Last Updated: 09/26/2026