Bertil Macao
Goeteborg, O 40530, Sweden
Last Updated: 09/26/2026
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Found 17 publications
SLIRP differentially modulates RNA binding of pathogenic LRPPRC variants.
Journal: NAR molecular medicine
Published: May 04, 2026
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Journal: Nature communications
Published: August 26, 2024
Small molecules restore mutant mitochondrial DNA polymerase activity.
Journal: Nature
Published: August 22, 2024
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 23, 2023
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 23, 2022
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Journal: Nucleic acids research
Published: September 14, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Journal: Nucleic acids research
Published: December 15, 2020
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Journal: Science advances
Published: November 24, 2020
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.
Journal: Neuromuscular disorders : NMD
Published: October 12, 2020
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Journal: The Journal of clinical investigation
Published: February 28, 2019
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Journal: Human molecular genetics
Published: February 24, 2017
Last Updated: 09/26/2026