Publications by authors named "Benjamin O'Callaghan"

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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia, Benjamin O'Callaghan

medRxiv· July 2025

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Metabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.
Gabriel E Valdebenito, Anitta R Chacko, Chih-Yao Chung, Preethi Sheshadri, Haoyu Chi, Benjamin O'Callaghan

Stem Cell Reports· April 2025

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KAT8 compound inhibition inhibits the initial steps of PINK1-dependant mitophagy.
Capucine de Talhouët, Noemi Esteras, Marc P M Soutar, Benjamin O'Callaghan, Helene Plun-Favreau

Sci Rep· May 2024

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Common genetic risk for Parkinson's disease and dysfunction of the endo-lysosomal system.
Noopur Bhore, Erin C Bogacki, Benjamin O'Callaghan, Helene Plun-Favreau, Patrick A Lewis

Philos Trans R Soc Lond B Biol Sci· April 2024

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The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease.
Amy R Hicks, Regina H Reynolds, Benjamin O'Callaghan, Sonia García-Ruiz, Ana Luisa Gil-Martínez

Brain· December 2023

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PINK1: From Parkinson's disease to mitophagy and back again.
Benjamin O'Callaghan, John Hardy, Helene Plun-Favreau

PLoS Biol· June 2023

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Pathophysiology of Dyt1- dystonia in mice is mediated by spinal neural circuit dysfunction.
Amanda M Pocratsky, Filipe Nascimento, M Görkem Özyurt, Ian J White, Roisin Sullivan, Benjamin J O'Callaghan

Sci Transl Med· May 2023

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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Marc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, Emily Annuario, Amy E Monaghan

Brain· December 2022

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Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
Santhalingam Gayathri, Vykuntaraju K Gowda, Tamilarasan Udhayabanu, Benjamin O'Callaghan, Stephanie Efthymiou

Eur J Neurol· March 2021

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Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
Isabel C Hostettler, Benjamin O'Callaghan, Enrico Bugiardini, Emer O'Connor, Jana Vandrovcova

Neurology· February 2021

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The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.
Zhiyi Wu, Remigijus Lape, Lea Jopp-Saile, Benjamin J O'Callaghan, Timo Greiner

J Physiol· August 2020

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Lucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O'Callaghan

Am J Hum Genet· March 2020

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An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
Benjamin O'Callaghan, Annet M Bosch, Henry Houlden

J Inherit Metab Dis· July 2019

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.
Marisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, Vinicius Scaramuzzi, Vitor Marques Caldas, Benjamin O'Callaghan

Brain· December 2018

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