Michal Minczuk

University of Cambridge — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

57h-index8.8kcitations149works3.92yr avg
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Research Topics

Mitochondrial Function and Pathology(89), RNA modifications and cancer(68), RNA and protein synthesis mechanisms(60), ATP Synthase and ATPases Research(28), Metabolism and Genetic Disorders(25)

Publications149 total

An inherited mitochondrial DNA mutation remodels inflammatory cytokine responses in macrophages and in vivo in mice
Nature Communications·2025· 2 citedOpen Access
Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization
Research Involvement and Engagement·2025Open Access
Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Investigative Ophthalmology & Visual Science·2025· 3 citedOpen Access
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity
Nature Communications·2025· 3 citedOpen Access
Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture
EMBO Molecular Medicine·2025· 6 citedOpen Access
Mitochondrial adenine base editing of mouse somatic tissues via adeno-associated viral delivery
2025Open Access
Mitochondrial adenine base editing of mouse somatic tissues via adeno-associated viral delivery
2025Open Access
An inherited mtDNA mutation remodels inflammatory cytokine responses in macrophages and <i>in vivo</i>
2025· 1 citedOpen Access
Mitochondrial adenine base editing of mouse somatic tissues via adeno-associated viral delivery
2024Open Access
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO Molecular Medicine·2024· 3 citedOpen Access
GTPBP8 plays a role in mitoribosome formation in human mitochondria
Nature Communications·2024· 7 citedOpen Access
The catalytic activity of methyltransferase METTL15 is dispensable for its role in mitochondrial ribosome biogenesis
RNA Biology·2024· 6 citedOpen Access
Gene therapy for mitochondrial disorders
Journal of Inherited Metabolic Disease·2024· 20 citedOpen Access
Protocol to study human mitochondrial ribosome using quantitative density gradient analysis by mass spectrometry and complexome profiling analysis
STAR Protocols·2023· 4 citedOpen Access
mtFociCounter for automated single-cell mitochondrial nucleoid quantification and reproducible foci analysis
Nucleic Acids Research·2023· 3 citedOpen Access
mtFociCounter for automated single-cell mitochondrial nucleoid quantification and reproducible foci analysis
Zenodo (CERN European Organization for Nuclear Research)·2023Open Access
Cell lineage-specific mitochondrial resilience during mammalian organogenesis
Cell·2023· 33 citedOpen Access
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Nature Communications·2023· 28 citedOpen Access
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>‐related mitochondrial disease
JIMD Reports·2023· 4 citedOpen Access
Manipulation of Murine Mitochondrial DNA Heteroplasmy with mtZFNs
Methods in molecular biology·2023· 4 cited
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Frequent Co-authors

Christopher A. Powell(18), Joanna Rorbach(15), Pedro Rebelo‐Guiomar(10), Payam A. Gammage(9), Lindsey Van Haute(9), Aaron R. D’Souza(9), Thomas J. Nicholls(9), Sarah F. Pearce(7), Holger Prokisch(7), Thomas Meitinger(6), Tobias B. Haack(5), Tim M. Strom(5), Monika Papworth(5), Massimo Zeviani(4), Johannes A. Mayr(4), Robert Kopajtich(4), Edoardo Gaude(3), Christian Frezza(3), Laura S. Kremer(3), Viktoriya Peeva(3)