Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Nichola Z, Lax"'
Autor:
Elizaveta A. Olkhova, Carla Bradshaw, Alasdair Blain, Debora Alvim, Doug M. Turnbull, Fiona E. N. LeBeau, Yi Shiau Ng, Gráinne S. Gorman, Nichola Z. Lax
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-17 (2023)
Abstract Mitochondrial diseases comprise a common group of neurometabolic disorders resulting from OXPHOS defects, that may manifest with neurological impairments, for which there are currently no disease-modifying therapies. Previous studies suggest
Externí odkaz:
https://doaj.org/article/d905e99197394a9cbdda0d8fb7b9226c
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:
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 11, Pp 1-13 (2018)
Abstract OXA1, the mitochondrial member of the YidC/Alb3/Oxa1 membrane protein insertase family, is required for the assembly of oxidative phosphorylation complexes IV and V in yeast. However, depletion of human OXA1 (OXA1L) was previously reported t
Externí odkaz:
https://doaj.org/article/0d713560574b49dfa1120e2d8edbb05c
Autor:
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carri
Externí odkaz:
https://doaj.org/article/3670bb9d88df4ad19193530872b41183
Autor:
Yi Shiau Ng, Nichola Z Lax, Alasdair P Blain, Daniel Erskine, Mark R Baker, Tuomo Polvikoski, Rhys H Thomas, Christopher M Morris, Ming Lai, Roger G Whittaker, Alasdair Gebbels, Amy Winder, Julie Hall, Catherine Feeney, Maria Elena Farrugia, Claire Hirst, Mark Roberts, Charlotte Lawthom, Alexia Chrysostomou, Kevin Murphy, Tracey Baird, Paul Maddison, Callum Duncan, Joanna Poulton, Victoria Nesbitt, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Emma L Blakely, Andrew M Schaefer, Doug M Turnbull, Robert McFarland, Gráinne S Gorman
Publikováno v:
Brain. 145:542-554
In this retrospective, multicentre, observational cohort study, we sought to determine the clinical, radiological, EEG, genetics and neuropathological characteristics of mitochondrial stroke-like episodes and to identify associated risk predictors. B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e14a8384ec670fc947947694bdc9707a
https://doi.org/10.1093/brain/awab353
https://doi.org/10.1093/brain/awab353
Autor:
Laura A. Smith, Daniel Erskine, Alasdair Blain, Robert W. Taylor, Robert McFarland, Nichola Z. Lax
Publikováno v:
Neuropathology and applied neurobiology. 48(6)
Alpers' syndrome is a severe neurodegenerative disease typically caused by bi-allelic variants in the mitochondrial DNA (mtDNA) polymerase gene, POLG, leading to mtDNA depletion. Intractable epilepsy, often with an occipital focus, and extensive neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c33d4d4847c6e8bb4dada69eff9d9ef
https://pubmed.ncbi.nlm.nih.gov/35790454
https://pubmed.ncbi.nlm.nih.gov/35790454
Autor:
Jonathan Meyrick, Renae J Stefanetti, Linda Errington, Robert McFarland, Gráinne S. Gorman, Nichola Z. Lax
Publikováno v:
Wellcome Open Research. 8:33
Introduction Pathogenic variants in the gene encoding the catalytic subunit of DNA polymerase gamma (POLG), comprise an important single-gene cause of inherited mitochondrial disorders. Clinical manifestations are now recognised as an array of overla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::873d35ad50a46aa96748b8e6322cd76a
https://doi.org/10.12688/wellcomeopenres.18637.1
https://doi.org/10.12688/wellcomeopenres.18637.1
Autor:
Elizabeth Tilley, Caroline M. Voss, Douglass M. Turnbull, Nichola Z. Lax, Zoe Powell, Mark O. Cunningham, Blanca I. Aldana, Sophie Nichols, Ceri H. Davies, Alistair Jenkins, Shuna Whyte, Felix Chan, Claire Nicholson, Helle S. Waagepetersen
Publikováno v:
Brain. 142:391-411
Approximately one-quarter of patients with mitochondrial disease experience epilepsy. Their epilepsy is often severe and resistant towards conventional antiepileptic drugs. Despite the severity of this epilepsy, there are currently no animal models a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c142aaee585b28d68c12ad95346f158f
https://doi.org/10.1093/brain/awy320
https://doi.org/10.1093/brain/awy320
Autor:
Douglass M. Turnbull, Alasdair P. Blain, Omar M. A. El-Agnaf, Christopher Hatton, Amy K. Reeve, Nichola Z. Lax, Yi Shiau Ng, John-Paul Taylor, Johannes Attems, Daniel Erskine
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-12 (2020)
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-12 (2020)
Neurons of the nucleus basalis of Meynert (nbM) are vulnerable to Lewy body formation and neuronal loss, which is thought to underlie cognitive dysfunction in Lewy body dementia (LBD). There is continued debate about whether Lewy bodies exert a neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e10b527f7c8663235891fdca4384d5a
https://pubmed.ncbi.nlm.nih.gov/32646480
https://pubmed.ncbi.nlm.nih.gov/32646480
Autor:
Amy K. Reeve, Nichola Z. Lax, Tuomo Polvikoski, Yi Shau Ng, Johannes Attems, Omar M. A. El-Agnaf, Robert W. Taylor, Andrew M. Schaefer, Daniel Erskine, Douglass M. Turnbull, Grainne S. Gorman
Publikováno v:
Acta Neuropathologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4083f3f8c690a58bb900a48f133a3075
http://europepmc.org/articles/PMC6942000
http://europepmc.org/articles/PMC6942000