Robert W. Taylor
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View article: RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis
RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis Open
A biochemical deficiency of mitochondrial complex I (CI) underlies approximately 30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characteris…
View article: Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death
Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death Open
The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in…
View article: Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series Open
National Institute for Health and Care Research, LifeArc, and Wellcome Trust.
View article: Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease Open
We found that mitochondrial donation through pronuclear transfer was compatible with human embryo viability. An integrated program involving pronuclear transfer and PGT was effective in reducing the transmission of homoplasmic and heteropl…
View article: Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease
Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease Open
Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. A reproductive care pathway was implemented to provide women carrying pathogenic mtDNA variants with reproductive opti…
View article: Expanding the Genetic and Phenotypic Spectrum of <scp><i>POLRMT</i></scp>‐Related Mitochondrial Disease
Expanding the Genetic and Phenotypic Spectrum of <span><i>POLRMT</i></span>‐Related Mitochondrial Disease Open
Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next…
View article: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases Open
View article: Infantile Cerebellar‐Retinal Degeneration Associated With Novel <i>ACO2</i> Variants: Clinical Features and Insights From a <i>Drosophila</i> Model
Infantile Cerebellar‐Retinal Degeneration Associated With Novel <i>ACO2</i> Variants: Clinical Features and Insights From a <i>Drosophila</i> Model Open
Infantile Cerebellar‐Retinal Degeneration (ICRD) is an autosomal recessive neuro‐disability associated with hypotonia, seizures, optic atrophy, and retinal degeneration. Recessive variants of the mitochondrial aconitase gene ( ACO2 ) are a…
View article: Autophagy regulator ATG7 links lipid metabolism to cell-fate decisions in kidney tubule health and disease
Autophagy regulator ATG7 links lipid metabolism to cell-fate decisions in kidney tubule health and disease Open
Homeostasis in the kidney proximal tubule (PT) requires coordination between metabolism and differentiation, yet the mechanisms governing this balance remain elusive. Here, we integrate model organisms, multiomics profiling, and human gene…
View article: COA5 has an essential role in the early stage of mitochondrial complex IV assembly
COA5 has an essential role in the early stage of mitochondrial complex IV assembly Open
Pathogenic variants in cytochrome c oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease with two siblings affected by neonatal hypertrophic cardiomyopathy m…
View article: Neuroprotective effects of fosgonimeton and amyloid‐β‐targeting monoclonal antibodies against amyloid‐β toxicity in primary neuron culture
Neuroprotective effects of fosgonimeton and amyloid‐β‐targeting monoclonal antibodies against amyloid‐β toxicity in primary neuron culture Open
Background We have previously reported the neuroprotective effects of fosgonimeton in amyloid‐β (Aβ)‐driven preclinical models of Alzheimer’s disease (AD). Fosgonimeton is an investigational small‐molecule positive modulator of the neurotr…
View article: Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease Open
Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been ident…
View article: A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4
A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 Open
Background Iron–sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression…
View article: Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion Open
Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This …
View article: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Open
Purpose and scope The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equ…
View article: Impact of Order Set on Exocrine Pancreatic Insufficiency in Chronic Pancreatitis, Pancreatic Cancer, and Pancreatic Resection
Impact of Order Set on Exocrine Pancreatic Insufficiency in Chronic Pancreatitis, Pancreatic Cancer, and Pancreatic Resection Open
View article: COA5 has an essential role in the early stage of mitochondrial complex IV assembly
COA5 has an essential role in the early stage of mitochondrial complex IV assembly Open
Pathogenic variants in cytochrome c oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease with two siblings affected by neonatal hypertrophic cardiomyopathy m…
View article: Seed-competent α-synuclein pathology in metachromatic leukodystrophy: the expanding spectrum of α-synucleinopathy in sphingolipidoses
Seed-competent α-synuclein pathology in metachromatic leukodystrophy: the expanding spectrum of α-synucleinopathy in sphingolipidoses Open
Metachromatic leukodystrophy (MLD) is a rare - typically paediatric - sphingolipid storage disorder resulting from bi-allelic pathogenic variants in the ARSA gene, encoding the lysosomal arylsulphatase A (ASA). Heterozygous variants in ARS…
View article: Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases
Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases Open
Only half of individuals with suspected rare diseases receive a definitive genetic diagnosis following genomic testing. A genetic diagnosis allows access to appropriate patient care and reduces the number of potentially unnecessary interve…
View article: Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation Open
Mitochondrial ribosomes (mitoribosomes) have undergone substantial evolutionary structural remodeling accompanied by loss of ribosomal RNA, while acquiring unique protein subunits located on the periphery. We generated CRISPR-mediated knoc…
View article: Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease Open
View article: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Open
View article: Perspectives on the ongoing impact of compulsory income management in the Northern Territory
Perspectives on the ongoing impact of compulsory income management in the Northern Territory Open
Since 2007, income support recipients in the Northern Territory (NT) have been subjected to compulsory income management (CIM), a form of welfare conditionality which continues, despite the withdrawal of CIM from other locations in Austral…
View article: Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Open
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleter…
View article: Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study Open
View article: Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology
Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology Open
Using a combination of peak fitting and matrix factorisation techniques we show that neuromuscular disease in both human biopsies and preclinical models manifests alterations in protein secondary structure. Created with biorender.com.
View article: Genetic Analysis and Multimodal Imaging Confirm M.12148t>C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction
Genetic Analysis and Multimodal Imaging Confirm M.12148t>C Mitochondrial Variant Pathogenicity Leading to Multisystem Dysfunction Open
View article: Biallelic <i>NUDT2</i> variants defective in mRNA decapping cause a neurodevelopmental disease
Biallelic <i>NUDT2</i> variants defective in mRNA decapping cause a neurodevelopmental disease Open
Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and…
View article: How has the media framed the introduction of the supervised injecting room in Victoria? A comparison of editorials of The Age and Herald Sun 2017–2022
How has the media framed the introduction of the supervised injecting room in Victoria? A comparison of editorials of The Age and Herald Sun 2017–2022 Open
Influenced by a harm reduction philosophy, the then Victorian Labor Government announced the establishment of the state's first medically supervised injecting room (MSIR) in North Richmond in late 2017. But, public and political opinion re…
View article: Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease Open
Isolated complex I (CI) deficiencies are a major cause of primary mitochondrial disease. Two-thirds of CI deficiencies arise from defects in CI assembly factors (CIAFs) that are not part of the CI holoenzyme. The biochemistry of CIAFs is p…