Robert W. Taylor - Mitochondrial Research Group and NIHR Biomedical Research Centre for Ageing and Age-Related Disease, Newcastle University

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The Role of Mito-Ribosomal Fidelity in Human Disease: Structural Analysis of Deafness-Related Mtdna Variants Mapping to Mitochondrial Rrna Genes

Antón Vila-Sanjurjo,Natalia Mallo,John Atkins,Joanna L. Elson,Paul M. Smith,Emma L. Blakely,Robert W. Taylor

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseaseno. 8 (2024): 167407

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Fit for Purpose: Selecting the Best Mitochondrial DNA for the Job

Sarah J. Pickett,Robert W. Taylor,Robert McFarland

Cell metabolismno. 7 (2024): 1436-1438

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Systematic Analysis of NDUFAF6 in Complex I Assembly and Mitochondrial Disease

Andrew Y. Sung,Rachel M. Guerra,Laura H. Steenberge,Charlotte L. Alston,Kei Murayama,Yasushi Okazaki,Masaru Shimura,Holger Prokisch,Daniele Ghezzi,Alessandra Torraco,Rosalba Carrozzo,Agnes Roetig,Robert W. Taylor,James L. Keck,David J. Pagliarini

Nature metabolismno. 6 (2024): 1128-1142

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Quantitative Proteomics of Patient Fibroblasts Reveal Biomarkers and Diagnostic Signatures of Mitochondrial Disease

Sandrina P. Correia,Marco F. Moedas, Lucie S. Taylor,Karin Naess,Albert Z. Lim,Robert McFarland, Zuzanna Kazior, Anastasia Rumyantseva,Rolf Wibom,Martin Engvall,Helene Bruhn,Nicole Lesko,Akos Vegvari,Lukas Kall,Matthias Trost,Charlotte L. Alston,Christoph Freyer,Robert W. Taylor,Anna Wedell,Anna Wredenberg

JCI INSIGHTno. 20 (2024)

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COA5 Has an Essential Role in the Early Stage of Mitochondrial Complex IV Assembly

Jia Xin Tang,Alfredo Cabrera-Orefice,Jana Meisterknecht, Lucie Taylor,Geoffray Monteuuis,Maria Ekman Stensland, Adam Szczepanek,Karen L Stals, James Davison,Langping He,Sila Hopton,Tuula A Nyman,Christopher B Jackson, Angela Pyle, Monika Winter,Ilka Wittig,Robert W Taylor

medrxiv（2024）

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Biallelic Variants Indap3result in Reduced Assembly of the Mitoribosomal Small Subunit with Altered Intrinsic and Extrinsic Apoptosis and a Perrault Syndrome-Spectrum Phenotype

Thomas B Smith,Robert Kopajtich,Leigh A M Demain,Alessandro Rea,Huw B Thomas, Manuel Schiff,Christian Beetz,Shelagh Joss,Gerard S Conway,Anju Shukla, Mayuri Yeole,Periyasamy Radhakrishnan,Hatem Azzouz,Amel Ben Chehida, Monique Elmaleh-Bergès,Ruth I C Glasgow, Kyle Thompson,Monika Oláhová,Langping He,Emma M Jenkinson,Amir Jahic,Inna A Belyantseva,Melanie Barzik,Jill E Urquhart,James O' Sullivan,Simon G Williams,Sanjeev S Bhaskar,Samantha Carrera,Alexander J M Blakes,Siddharth Banka, Wyatt W Yue,Jamie M Ellingford,Henry Houlden,DDD Study, Kevin J Munro, Thomas B Friedman,Robert W Taylor, Holger Prokisch,Raymond T O'Keefe,William G Newman

medRxiv the preprint server for health sciences (2024)

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Biallelic Variants in MRPL49 Cause Variable Clinical Presentations, Including Sensorineural Hearing Loss, Leukodystrophy, and Ovarian Insufficiency

Huw B Thomas,Leigh A M Demain,Alfredo Cabrera-Orefice, Isabelle Schrauwen,Hanan E Shamseldin,Alessandro Rea,Thashi Bharadwaj, Thomas B Smith,Monika Oláhová, Kyle Thompson,Langping He,Namanpreet Kaur,Anju Shukla,Musaad Abukhalid,Muhammad Ansar,Sakina Rehman,Saima Riazuddin,Firdous Abdulwahab, Janine M Smith,Zornitza Stark,Samantha Carrera,Wyatt W Yue,Kevin J Munro,Fowzan S Alkuraya, Peter Jamieson,Zubair M Ahmed,Suzanne M Leal,Robert W Taylor,Ilka Wittig,Raymond T O'Keefe,William G Newman

medRxiv the preprint server for health sciences (2024)

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De Novo Variants in RNF213 Are Associated with a Clinical Spectrum Ranging from Leigh Syndrome to Early-Onset Stroke

GENETICS IN MEDICINEno. 2 (2024)

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Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

Ana Töpf,Dan Cox,Irina T. Zaharieva,Valeria Di Leo,Jaakko Sarparanta,Per Harald Jonson,Ian M. Sealy,Andrei Smolnikov,Richard J. White,Anna Vihola,Marco Savarese,Munise Merteroglu,Neha Wali,Kristen M. Laricchia,Cristina Venturini,Bas Vroling,Sarah L. Stenton,Beryl B. Cummings,Elizabeth Harris,Chiara Marini-Bettolo,Jordi Diaz-Manera, Matt Henderson,Rita Barresi,Jennifer Duff,Eleina M. England, Jane Patrick, Sundos Al-Husayni,Valerie Biancalana,Alan H. Beggs,Istvan Bodi,Shobhana Bommireddipalli,Carsten G. Bönnemann,Anita Cairns, Mei-Ting Chiew,Kristl G. Claeys,Sandra T. Cooper,Mark R. Davis,Sandra Donkervoort,Corrie E. Erasmus,Mahmoud R. Fassad,Casie A. Genetti,Carla Grosmann,Heinz Jungbluth,Erik-Jan Kamsteeg,Xavière Lornage,Wolfgang N. Löscher,Edoardo Malfatti,Adnan Manzur,Pilar Martí,Tiziana E. Mongini,Nuria Muelas,Atsuko Nishikawa,Anne O’Donnell-Luria,Narumi Ogonuki,Gina L. O’Grady,Emily O’Heir,Stéphanie Paquay,Rahul Phadke,Beth A. Pletcher,Norma B. Romero,Meyke Schouten, Snehal Shah,Izelle Smuts,Yves Sznajer,Giorgio Tasca,Robert W. Taylor,Allysa Tuite,Peter Van den Bergh,Grace VanNoy,Nicol C. Voermans,Julia V. Wanschitz,Elizabeth Wraige, Kimihiko Yoshimura,Emily C. Oates,Osamu Nakagawa,Ichizo Nishino,Jocelyn Laporte,Juan J. Vilchez,Daniel G. MacArthur,Anna Sarkozy,Heather J. Cordell,Bjarne Udd,Elisabeth M. Busch-Nentwich,Francesco Muntoni,Volker Straub

Nature Genetics（2024）

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