Full Text Journal Articles by
Author Robert W Taylor

Advertisement

Find full text journal articles






Albinism and a mitochondrial DNA deletion.

Corina M Chilibeck, Emma E Glamuzina, Casey Y-J Ung, Emma L Blakely, Robert W Taylor, Andrea L Vincent,

Ophthalmic Genet. (Ophthalmic genetics)
[2020, :1-4]

Cited: 0 times

View full text PDF listing >>



Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed-Sternberg cells.

Sophie Haumann, Julia Boix, Jana Knuever, Angela Bieling, Anton Vila Sanjurjo, Joanna L Elson, Emma L Blakely, Robert W Taylor, Nicole Riet, Hinrich Abken, Hamid Kashkar, Hue-Tran Hornig-Do, Rudolf J Wiesner,

Functioning mitochondria are crucial for cancer metabolism, but aerobic glycolysis is still considered to be an important pathway for energy production in many tumor cells. Here we show that two well established, classic Hodgkin lymphoma cell lines (cHL) harbor deleterious variants within mitochondrial DNA (mtDNA) and thus exhibit reduced steady ... Read more >>

Carcinogenesis (Carcinogenesis)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.

Luke O'Donnell, Emma L Blakely, Karen Baty, Michael Alexander, Petya Bogdanova-Mihaylova, John Craig, Ronan Walsh, Francesca Brett, Robert W Taylor, Sinead M Murphy,

We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a rare mitochondrial genetic variant. Muscle biopsy revealed numerous cytochrome c oxidase (COX)-deficient fibres, prompting sequencing of the entire mitochondrial genome in muscle which revealed a rare m.12334G>A variant in the mitochondrial (mt-) tRNALeu (CUN)(MT-TL2) gene. Analysis of several ... Read more >>

J Neuromuscul Dis (Journal of neuromuscular diseases)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.

Olivia V Poole, Alejandro Horga, Steven A Hardy, Enrico Bugiardini, Cathy E Woodward, Iain P Hargreaves, Ashirwad Merve, Rosaline Quinlivan, Robert W Taylor, Michael G Hanna, Robert D S Pitceathly,

Neurol Genet (Neurology. Genetics)
[2020, 6(2):e413]

Cited: 0 times

View full text PDF listing >>



Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant.

Pushpa Raj Joshi, Karen Baty, Sila Hopton, Isabell Cordts, Gavin Falkous, Benedikt Schoser, Emma L Blakely, Robert W Taylor, Marcus Deschauer,

Progressive external ophthalmoplegia is typically associated with single or multiple mtDNA deletions but occasionally mtDNA single nucleotide variants within mitochondrial transfer RNAs (mt-tRNAs) are identified. We report a 34-year-old female sporadic patient with progressive external ophthalmoplegia accompanied by exercise intolerance but neither fixed weakness nor multisystemic involvement. Histopathologically, abundant COX-deficient ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, 30(4):346-350]

Cited: 0 times

View full text PDF listing >>



Metabolic effects of bezafibrate in mitochondrial disease.

Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery,

Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open-label observational experimental medicine study of six patients with mitochondrial myopathy caused by the m.3243A>G MTTL1 mutation. Our primary aim was ... Read more >>

EMBO Mol Med (EMBO molecular medicine)
[2020, 12(3):e11589]

Cited: 0 times

View full text PDF listing >>



Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Adam C Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen L Stals, Romina Durigon, Karina Durlacher-Betzer, Mitchell H Cunningham, Christopher M Grochowski, Julia Baptista, Carolyn Tysoe, Emma Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Uxoa Fernandez Pelayo, Aleck W E Jones, Robert W Taylor, Vinod K Misra, Wan Hee Yoon, Caroline F Wright, James R Lupski, Antonella Spinazzola, Tamar Harel, Ian J Holt, Sian Ellard,

Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2020, 106(2):272-279]

Cited: 0 times

View full text PDF listing >>



Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A Hardy, Andrew M Schaefer, Sandip Shaunak, Mark E Roberts, James B Lilleker, Robert W Taylor,

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial complex I deficiency in skeletal muscle biopsies. The first ... Read more >>

Front Genet (Frontiers in genetics)
[2020, 11:24]

Cited: 0 times

View full text PDF listing >>



Assessment of mitochondrial respiratory chain enzymes in cells and tissues.

Ann E Frazier, Amy E Vincent, Doug M Turnbull, David R Thorburn, Robert W Taylor,

Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation (OXPHOS) forms a key part of diagnostic investigations in patients with suspected mitochondrial disease, and can provide crucial information on mitochondrial OXPHOS function in a variety of cells and tissues that are applicable to many research investigations. In this chapter, ... Read more >>

Methods Cell Biol. (Methods in cell biology)
[2020, 155:121-156]

Cited: 0 times

View full text PDF listing >>



Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Charlotte L Alston, Mike T Veling, Juliana Heidler, Lucie S Taylor, Joseph T Alaimo, Andrew Y Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B Wortmann, Penelope E Bonnen, Ilka Wittig, David J Pagliarini, Robert W Taylor,

Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental milestones. Genetic diagnosis of Leigh syndrome is complicated ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2020, 106(1):92-101]

Cited: 0 times

View full text PDF listing >>



A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.

Shpresa Pula, Kathryn Urankar, Andrew Norman, Germaine Pierre, Simon Langton-Hewer, Victoria Selby, Faye Mason, Kayal Vijayakumar, Robert McFarland, Robert W Taylor, Anirban Majumdar,

We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin) and moderately low enzyme level of Complex I of the mitochondrial respiratory chain. She presented in the neonatal period with hypotonia, followed by weakness in the ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2020, 30(2):159-164]

Cited: 0 times

View full text PDF listing >>



Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.

Daniel Erskine, Amy K Reeve, Tuomo Polvikoski, Andrew M Schaefer, Robert W Taylor, Nichola Z Lax, Omar El-Agnaf, Johannes Attems, Gráinne S Gorman, Doug M Turnbull, Yi Shau Ng,

Acta Neuropathol. (Acta neuropathologica)
[2020, 139(1):219-221]

Cited: 0 times

View full text PDF listing >>



Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Lien Van Eyck, Francesco Bruni, Anne Ronan, Tracy A Briggs, Tony Roscioli, Gillian I Rice, Grace Vassallo, Mathieu P Rodero, Langping He, Robert W Taylor, John H Livingston, Zofia M A Chrzanowska-Lightowlers, Yanick J Crow,

BACKGROUND: A homozygous founder mutation in MTPAP/TENT6, encoding mitochondrial poly(A) polymerase (MTPAP), was first reported in six individuals of Old Order Amish descent demonstrating an early-onset, progressive spastic ataxia with optic atrophy and learning difficulties. MTPAP contributes to the regulation of mitochondrial gene expression through the polyadenylation of mitochondrially encoded mRNAs. ... Read more >>

Neuropediatrics (Neuropediatrics)
[2020, 51(3):178-184]

Cited: 0 times

View full text PDF listing >>



Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

Ewen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, Francesco Bruni, Kyle Thompson, Mariana Rocha, Emma L Blakely, Langping He, Gavin Falkous, Andrew M Schaefer, Patrick Yu-Wai-Man, Patrick F Chinnery, Lizbeth Hedstrom, Antonella Spinazzola, Robert W Taylor, Gráinne S Gorman,

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a late-onset, Mendelian mitochondrial disorder characterised by paresis of the extraocular muscles, ptosis, and skeletal-muscle restricted multiple mitochondrial DNA (mtDNA) deletions. Although dominantly inherited, pathogenic variants in POLG, TWNK and RRM2B are among the most common genetic defects of adPEO, identification of novel ... Read more >>

Clin. Genet. (Clinical genetics)
[2020, 97(2):276-286]

Cited: 0 times

View full text PDF listing >>



Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Monika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, Charlotte L Alston, Elisabeth Jameson, Simon A Jones, Noel Edwards, Langping He, Patrick F Chinnery, Rita Horvath, Paola Goffrini, Robert W Taylor, John A Sayer,

BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L variants include growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death (GRACILE syndrome), and Björnstad ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2019, 28(22):3766-3776]

Cited: 0 times

View full text PDF listing >>



Resolving complexity in mitochondrial disease: Towards precision medicine.

Róisín M Boggan, Albert Lim, Robert W Taylor, Robert McFarland, Sarah J Pickett,

Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes (mtDNA), are the most common form of inherited neurometabolic disorders. They are remarkably heterogeneous, both in their clinical presentation and genetic etiology, presenting challenges for diagnosis, clinical management and elucidation of molecular mechanism. The multifaceted nature of these ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2019, 128(1-2):19-29]

Cited: 1 time

View full text PDF listing >>



Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A Barbosa, Charu Deshpande, Robert W Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller,

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, associated mainly with the severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). We previously reported a single family with a homozygous ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, 28(3):373-377]

Cited: 0 times

View full text PDF listing >>



The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Nandaki Keshavan, Jose Abdenur, Glenn Anderson, Zahra Assouline, Giulia Barcia, Lamia Bouhikbar, Anupam Chakrapani, Maureen Cleary, Marta C Cohen, François Feillet, Carl Fratter, Natalie Hauser, Tom Jacques, Amanda Lam, Helen McCullagh, Rahul Phadke, Agnès Rötig, Mark Sharrard, Mariella Simon, Conrad Smith, Ewen W Sommerville, Robert W Taylor, Wyatt W Yue, Shamima Rahman,

PURPOSE:Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of this disease. METHODS:Multinational series of new genetically confirmed cases from six pediatric centers. RESULTS:Nine new cases of ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(1):199-209]

Cited: 0 times

View full text PDF listing >>



A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Debby M E I Hellebrekers, Emma L Blakely, Alexandra T M Hendrickx, Steven A Hardy, Sila Hopton, Gavin Falkous, Irenaeus F M de Coo, Hubert J M Smeets, Nadine M E van der Beek, Robert W Taylor,

We report a novel mitochondrial m.4414T>C variant in the mt-tRNAMet (MT-TM) gene in an adult patient with chronic progressive external ophthalmoplegia and myopathy whose muscle biopsy revealed focal cytochrome c oxidase (COX)-deficient and ragged red fibres. The m.4414T>C variant occurs at a strongly evolutionary conserved sequence position, disturbing a canonical ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2019, 29(9):693-697]

Cited: 0 times

View full text PDF listing >>



Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra B T Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García-Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez-Mallebrera, Robert W Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C Grünert, Andreas Roos, Rita Horvath,

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, and encephalopathy with cognitive decline. We report nine subjects from seven independent families, and we studied muscle ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, 43(2):297-308]

Cited: 0 times

View full text PDF listing >>



Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Diana Lehmann, Helen A L Tuppen, Georgia E Campbell, Charlotte L Alston, Conor Lawless, Hannah S Rosa, Mariana C Rocha, Amy K Reeve, Thomas J Nicholls, Marcus Deschauer, Stephan Zierz, Robert W Taylor, Doug M Turnbull, Amy E Vincent,

Clonal expansion of mitochondrial DNA (mtDNA) deletions is an important pathological mechanism in adults with mtDNA maintenance disorders, leading to a mosaic mitochondrial respiratory chain deficiency in skeletal muscle. This study had two aims: (i) to determine if different Mendelian mtDNA maintenance disorders showed similar pattern of mtDNA deletions and ... Read more >>

Nucleic Acids Res. (Nucleic acids research)
[2019, 47(14):7430-7443]

Cited: 0 times

View full text PDF listing >>



Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Yi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, Alasdair Blain, Enrico Bugiardini, Apphia Bunting, Andrew M Schaefer, Charlotte L Alston, Emma L Blakely, Sunil Sharma, Imelda Hughes, Albert Lim, Christian de Goede, Meriel McEntagart, Stefan Spinty, Iain Horrocks, Mark Roberts, Cathy E Woodward, Patrick F Chinnery, Rita Horvath, Victoria Nesbitt, Carl Fratter, Joanna Poulton, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Doug M Turnbull, Robert McFarland,

Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic ... Read more >>

Ann. Neurol. (Annals of neurology)
[2019, 86(2):310-315]

Cited: 0 times

View full text PDF listing >>



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

Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Bertini, Penelope E Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria A Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla-Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo-Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W Taylor, Louis Levinger, Michal Minczuk,

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial ... Read more >>

Hum. Mutat. (Human mutation)
[2019, 40(10):1731-1748]

Cited: 0 times

View full text PDF listing >>



A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Charlotte M Zierz, Karen Baty, Emma L Blakely, Sila Hopton, Gavin Falkous, Andrew M Schaefer, Marios Hadjivassiliou, Ptolemaios G Sarrigiannis, Yi Shiau Ng, Robert W Taylor,

Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progressive cerebellar ataxia, tremor and axonal neuropathy. No family history of neurological disorder was reported. ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(6):]

Cited: 0 times

View full text PDF listing >>



Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Rachel L Boal, Yi Shiau Ng, Sarah J Pickett, Andrew M Schaefer, Catherine Feeney, Alexandra Bright, Robert W Taylor, Doug M Turnbull, Grainne S Gorman, Tim Cheetham, Robert McFarland,

CONTEXT:Abnormal growth and short stature are observed in patients with mitochondrial disease, but it is unclear whether there is a relationship between final adult height and disease severity. OBJECTIVE:To determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity. ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2019, 104(6):2057-2066]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
1.2633 s