Mark T. Handley

St James's University Hospital
Leeds, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 17 publications

Inosine misincorporation into mRNA triggers the integrated stress response and activates an innate immune gene expression signature.

Inosine misincorporation into mRNA triggers the integrated stress response and activates an innate immune gene expression signature.

Journal: bioRxiv : the preprint server for biology
Published: February 06, 2026

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1.

Identification of enzymatically modified isoquercitrin as a therapeutic lead for myotonic dystrophy type 1.

Journal: NAR molecular medicine
Published: March 17, 2025

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Journal: The Journal of biological chemistry
Published: March 16, 2023

Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.

Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.

Journal: Wiley interdisciplinary reviews. RNA
Published: November 30, 2022

Disease-associated inosine misincorporation into RNA hinders translation.

Disease-associated inosine misincorporation into RNA hinders translation.

Journal: Nucleic acids research
Published: April 02, 2022

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Journal: PLoS genetics
Published: July 31, 2018

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Journal: Investigative ophthalmology & visual science
Published: January 28, 2017

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Journal: American journal of human genetics
Published: January 01, 2017

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 24, 2016

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Journal: American journal of human genetics
Published: November 16, 2015

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Journal: Open biology
Published: June 12, 2015

Rab18 and a Rab18 GEF complex are required for normal ER structure.

Rab18 and a Rab18 GEF complex are required for normal ER structure.

Journal: The Journal of cell biology
Published: June 04, 2014
Showing 1-12 of 17

Last Updated: 09/26/2026