Robert William Taylor

Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

Pathogenic DRP1 variants reveal a role for biomolecular condensation in mitochondrial fission

This study shows pathogenic DRP1 variants impair mitochondrial fission by affecting biomolecular condensation, revealing a new regulatory mechanism.

Neuroinflammation and metabolic dysfunction in POLG-related mitochondrial epilepsy

This study investigates neuroinflammation and metabolic dysfunction in POLG-related mitochondrial epilepsy using post-mortem brain tissues and proteomic analysis.

Pathogenic PTCD1 variants cause mitochondrial protein aggregation and cardiomyopathy

This study identifies pathogenic PTCD1 variants causing mitochondrial protein aggregation and cardiomyopathy by disrupting mitoribosome biogenesis and proteostasis.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

Pharmacological activation of AMPK rescues mitophagy defects in models of FBXL4-related mitochondrial DNA depletion syndrome

This study shows that activating AMPK reduces excessive mitophagy and restores mitochondrial function in FBXL4-related mitochondrial DNA depletion syndrome models.

RTN4IP1 is essential for the final stages of mitochondrial complex I assembly and coenzyme Q biosynthesis

This study shows RTN4IP1 is critical for mitochondrial complex I assembly and coenzyme Q biosynthesis, with mutations causing defects in both processes in patient cells.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

Genetic Risk of Axonal Neuropathy Following Infection

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

Seed-competent alpha-synuclein pathology in metachromatic leukodystrophy: the expanding spectrum of alpha-synucleinopathy in sphingolipidoses

This study examines alpha-synuclein pathology in metachromatic leukodystrophy (MLD) brain tissue, finding seed-competent alpha-synuclein conformers in juvenile-onset cases, similar to Lewy body diseases.

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

The paper investigates the functional roles of 14 unique human mitochondrial ribosomal proteins in the small subunit, showing their essentiality in assembly and translation, with a redox-regulated role for mS37.

Inflammation and autophagy dysfunction in metachromatic leukodystrophy: a central role for mTOR?

This study identifies inflammation and autophagy dysfunction, linked to mTOR pathway activation, as key mechanisms in metachromatic leukodystrophy using postmortem tissue analysis.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.

Genetic diagnosis of Mendelian disorders via RNA sequencing

This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.