Gonzalo Siles-Perez

Concord, NSW 2139, Australia

Last Updated: 09/26/2026

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Found 16 publications

A high-content phenotypic screen identifies luteolin as a repurposed drug to reduce pyruvate dehydrogenase phosphorylation and enhance energy production in CMTX6 cell models.

A high-content phenotypic screen identifies luteolin as a repurposed drug to reduce pyruvate dehydrogenase phosphorylation and enhance energy production in CMTX6 cell models.

Journal: Journal of molecular cell biology
Published: March 23, 2026

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

Copper restriction unmasks axonal degeneration in a mouse model of X-linked hereditary motor neuropathy.

Journal: Metallomics : integrated biometal science
Published: February 18, 2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Journal: Human molecular genetics
Published: December 23, 2025

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology
Published: August 25, 2025

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

Journal: Experimental & molecular medicine
Published: November 10, 2023

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.

Journal: Genes & diseases
Published: April 11, 2023

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Journal: Brain : a journal of neurology
Published: August 08, 2022

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

Journal: Frontiers in genetics
Published: December 24, 2021

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

Journal: Frontiers in genetics
Published: October 25, 2021

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Journal: Human molecular genetics
Published: April 16, 2021

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Journal: Neurogenetics
Published: March 08, 2021

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

Journal: Scientific reports
Published: December 12, 2019
Showing 1-12 of 16

Last Updated: 09/26/2026