Benjamin Munro

Robinson Way
Cambridge, ENG CB20PY, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.

Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.

Journal: Human molecular genetics

Published: December 14, 2024

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: August 22, 2023

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.

Journal: Human molecular genetics

Published: August 10, 2023

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Journal: Nature communications

Published: September 30, 2021

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Journal: Human molecular genetics

Published: June 23, 2021

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.

Journal: Frontiers in cell and developmental biology

Published: May 15, 2021

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Journal: Journal of neuromuscular diseases

Published: May 24, 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

Journal: The EMBO journal

Published: April 21, 2020

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.

Journal: Life science alliance

Published: February 17, 2020

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish.

Journal: Human molecular genetics

Published: October 01, 2018

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Journal: American journal of human genetics

Published: December 15, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026