Zobrazeno 1 - 10
of 285
pro vyhledávání: '"Robert, McFarland"'
Autor:
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone
Externí odkaz:
https://doaj.org/article/4f97c609fc144737ad690173a33bc63e
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)
Abstract Refractory epilepsy is the main neurological manifestation of Alpers’ syndrome, a severe childhood-onset mitochondrial disease caused by bi-allelic pathogenic variants in the mitochondrial DNA (mtDNA) polymerase gamma gene (POLG). The path
Externí odkaz:
https://doaj.org/article/8e9d2f09c5784d55a2312be18ed13da1
Autor:
Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)
Abstract The C‐terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been show
Externí odkaz:
https://doaj.org/article/df0e1594280e47c0a558ea4c173944ec
Autor:
The AIMM Trial Group:, Alaa Abouhajar, Lisa Alcock, Theophile Bigirumurame, Penny Bradley, Laura Brown, Ian Campbell, Sylvia Del Din, Julie Faitg, Gavin Falkous, Gráinne S. Gorman, Rachel Lakey, Robert McFarland, Jane Newman, Lynn Rochester, Vicky Ryan, Hesther Smith, Alison Steel, Renae J. Stefanetti, Huizhong Su, Robert W. Taylor, Naomi J.P. Thomas, Helen Tuppen, Amy E. Vincent, Charlotte Warren, Gillian Watson
Publikováno v:
Trials, Vol 23, Iss 1, Pp 1-15 (2022)
Abstract Background Mitochondrial disease is a heterogenous group of rare, complex neurometabolic disorders. Despite their individual rarity, collectively mitochondrial diseases represent the most common cause of inherited metabolic disorders in the
Externí odkaz:
https://doaj.org/article/0e77b4f741a34930bece1b228e941d9a
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
David Houghton, Yi Shiau Ng, Matthew A. Jackson, Renae Stefanetti, Paula Hynd, Micheál Mac Aogáin, Christopher J. Stewart, Christopher A. Lamb, Alexandra Bright, Catherine Feeney, Jane Newman, Doug M. Turnbull, Robert McFarland, Alasdair P. Blain, Gráinne S. Gorman
Publikováno v:
Gastro Hep Advances, Vol 1, Iss 4, Pp 666-677 (2022)
Background and Aims: Gastrointestinal (GI) dysmotility is a common and debilitating clinical manifestation in patients with mitochondrial DNA (mtDNA)–related disease with no curative and few effective symptomatic therapies. A low-residue diet (LRD)
Externí odkaz:
https://doaj.org/article/2ccd4656b73646229b46bc482079664a
Autor:
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-mai Julie Dang, Lodovica Vergani, Iain G. Johnston, Robert D. S. Pitceathly, Robert McFarland, Michael G. Hanna, Robert W. Taylor, Ian J. Holt, Antonella Spinazzola
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
It has been a longstanding goal to promote the propagation of functional mitochondrial DNAs at the expense of pathological molecules in cells where the two species coexist. Here, the authors show that restricting the availability of glucose and gluta
Externí odkaz:
https://doaj.org/article/ddb6e0fbdcc044759f368cb2f07e6239
Autor:
Kyle Thompson, Lucas Bianchi, Francesca Rastelli, Florence Piron-Prunier, Sophie Ayciriex, Claude Besmond, Laurence Hubert, Magalie Barth, Inês A. Barbosa, Charu Deshpande, Manali Chitre, Sarju G. Mehta, Eric J.M. Wever, Pascale Marcorelles, Sandra Donkervoort, Dimah Saade, Carsten G. Bönnemann, Katherine R. Chao, Chunyu Cai, Susan T. Iannaccone, Andrew F. Dean, Robert McFarland, Frédéric M. Vaz, Agnès Delahodde, Robert W. Taylor, Agnès Rötig
Publikováno v:
HGG Advances, Vol 3, Iss 2, Pp 100097- (2022)
Summary: Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes. TAMM41 encodes a mitochondrial protein with cytidine diphosphate-diacylglycerol synt
Externí odkaz:
https://doaj.org/article/3e06951a912a4d6080e971a99e6d10b0
Autor:
Amel Karaa, Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob vanMaanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V. Sherman, Philip Yeske, Marni J. Falk
Publikováno v:
Advanced Genetics, Vol 3, Iss 1, Pp n/a-n/a (2022)
Abstract Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of re
Externí odkaz:
https://doaj.org/article/8cf3a91187eb4fbda59f9d81b59014df
Autor:
Scott A. Lujan, Matthew J. Longley, Margaret H. Humble, Christopher A. Lavender, Adam Burkholder, Emma L. Blakely, Charlotte L. Alston, Grainne S. Gorman, Doug M. Turnbull, Robert McFarland, Robert W. Taylor, Thomas A. Kunkel, William C. Copeland
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-34 (2020)
Abstract Background Acquired human mitochondrial genome (mtDNA) deletions are symptoms and drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and late-onset mitochondrial disease. Results To decipher connections b
Externí odkaz:
https://doaj.org/article/15e2915608854379b2a6c820537c4ae2