Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Carl, Fratter"'
Autor:
Eszter Dombi, Tony Marinaki, Paolo Spingardi, Val Millar, Nastasia Hadjichristou, Janet Carver, Iain G. Johnston, Carl Fratter, Joanna Poulton
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Introduction: In mitochondrial DNA (mtDNA) depletion syndrome (MDS), patients cannot maintain sufficient mtDNA for their energy needs. MDS presentations range from infantile encephalopathy with hepatopathy (Alpers syndrome) to adult chronic progressi
Externí odkaz:
https://doaj.org/article/442c27504d594d649cab9edffe962c10
Autor:
Mario K. Shammas, Xiaoping Huang, Beverly P. Wu, Evelyn Fessler, Insung Y. Song, Nicholas P. Randolph, Yan Li, Christopher K.E. Bleck, Danielle A. Springer, Carl Fratter, Ines A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos Lopez-Otin, Lucas T. Jae, Joanna Poulton, Derek P. Narendra
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 14 (2022)
Mitochondrial stress triggers a response in the cell’s mitochondria and nucleus, but how these stress responses are coordinated in vivo is poorly understood. Here, we characterize a family with myopathy caused by a dominant p.G58R mutation in the m
Externí odkaz:
https://doaj.org/article/ef70aa06d2af4caebf5831735eb5446d
Autor:
Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Recent evidence has questioned the dogma of strict maternal transmission of mitochondrial DNA (mtDNA) in humans. Wei et al. saw no evidence of paternal transmission of mtDNA in 11,035 human trios, and show that nuclear-mitochondrial segments (NUMTs)
Externí odkaz:
https://doaj.org/article/1b33ee54b03a414c950db059cdfe623d
Autor:
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100629- (2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gen
Externí odkaz:
https://doaj.org/article/62da609519d049c487e202f93647ff04
Autor:
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James Polke, Robert W. Taylor, Carl Fratter
Publikováno v:
European Journal of Human Genetics. 31:148-163
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45108d4849e41300ae18db25c79e3e42
https://doi.org/10.1038/s41431-022-01249-w
https://doi.org/10.1038/s41431-022-01249-w
Autor:
Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-2 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/bb53ffdec5c0486d8769cb8a5b75d574
Autor:
Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145500 (2016)
Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism
Externí odkaz:
https://doaj.org/article/ec6375b1818241cab0f1ce4c29b4eb0c
Autor:
Mario K. Shammas, Xiaoping Huang, Beverly P. Wu, Insung Song, Nicholas Randolph, Yan Li, Christopher K. E. Bleck, Danielle A. Springer, Carl Fratter, Ines A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos Lopez-Otin, Joanna Poulton, Derek P. Narendra
Mitochondrial stress triggers a response in the cell’s mitochondria and nucleus, but how these stress responses are coordinated in vivo is poorly understood. Here, we characterize a family with myopathy caused by a dominant p.G58R mutation in the m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa7193f7a8255862d65cb36d7304cd88
https://doi.org/10.1101/2021.12.21.473493
https://doi.org/10.1101/2021.12.21.473493
Autor:
Hannah E. Steele, David R. Thorburn, Amel Karaa, Mark A. Tarnopolsky, Patrick F. Chinnery, Marni J. Falk, Enrico Bertini, Victoria Nesbitt, Robert McFarland, Shamima Rahman, Carolyn M. Sue, Silvia Stockler, Mary Kay Koenig, Manuel Schiff, Elizabeth M. McCormick, Michaelangelo Mancuso, Ryan L. Davis, Jerry Vockley, Carl Fratter, Rita Horvath, Shana E. McCormack, Amy Goldstein, John Christodoulou, Sumit Parikh, Bruce H. Cohen
Publikováno v:
Journal of Medical Genetics. 56:123-130
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term ‘possible’ mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e4807b3a7132d0aa8f5f3feb2a7c92e
https://doi.org/10.1136/jmedgenet-2018-105800
https://doi.org/10.1136/jmedgenet-2018-105800
Autor:
Carl Fratter, Surita Meldau, Gillian Riordan, Kate Sergeant, Kashief Khan, Louisa Ntombenhle Bhengu, Peter Berman
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100629-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100629-(2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration. Although the PDHA1 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4edf9a1b58c2acc5cf99850c4359e39
http://europepmc.org/articles/PMC7387837
http://europepmc.org/articles/PMC7387837