Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Doug M, Turnbull"'
Autor:
Daniel Hipps, Angela Pyle, Anna L. R. Porter, Philip F. Dobson, Helen Tuppen, Conor Lawless, Oliver M. Russell, Doug M. Turnbull, David J. Deehan, Gavin Hudson
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Heteroplasmic mitochondrial DNA (mtDNA) variants accumulate as humans age, particularly in the stem-cell compartments, and are an important contributor to age-related disease. Mitochondrial dysfunction has been observed in osteoporosis and s
Externí odkaz:
https://doaj.org/article/5eac97d467004ee884dd4b8ea518c00b
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
Autor:
Ashwin Sachdeva, Claire A. Hart, Christopher D. Carey, Amy E. Vincent, Laura C. Greaves, Rakesh Heer, Pedro Oliveira, Michael D. Brown, Noel W. Clarke, Doug M. Turnbull
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Advances in multiplex immunofluorescence (mIF) and digital image analysis has enabled simultaneous assessment of protein defects in electron transport chain components. However, current manual methodology is time consuming and labour intensi
Externí odkaz:
https://doaj.org/article/e3358b5729ea406d9a319d06fa673144
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:
Chun Chen, David McDonald, Alasdair Blain, Ashwin Sachdeva, Laura Bone, Anna L. M. Smith, Charlotte Warren, Sarah J. Pickett, Gavin Hudson, Andrew Filby, Amy E. Vincent, Doug M. Turnbull, Amy K. Reeve
Publikováno v:
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-13 (2021)
Abstract Here we report the application of a mass spectrometry-based technology, imaging mass cytometry, to perform in-depth proteomic profiling of mitochondrial complexes in single neurons, using metal-conjugated antibodies to label post-mortem huma
Externí odkaz:
https://doaj.org/article/d11c8df42c1742fbb028839471ea2b10
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
Autor:
John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman
Publikováno v:
Open Heart, Vol 8, Iss 1 (2021)
Objective Regular cardiac surveillance is advocated for patients with primary mitochondrial DNA disease. However, there is limited information to guide clinical practice in mitochondrial conditions caused by nuclear DNA defects. We sought to determin
Externí odkaz:
https://doaj.org/article/90054628b24a4e5babbabd4aa95f3898
Autor:
Heather L. Moore, Thomas Kelly, Alexandra Bright, Robert H. Field, Andrew M. Schaefer, Alasdair P. Blain, Robert W. Taylor, Robert McFarland, Doug M. Turnbull, Gráinne S. Gorman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 826-836 (2019)
Abstract Objective To determine the cognitive profile of adult patients with mitochondrial disease, and the effect of disease severity on cognition. Methods Using a prospective case‐control design, we compared cognition of patients to normative dat
Externí odkaz:
https://doaj.org/article/f867092267ad45ff9f7263569a957034
Autor:
Miguel Fernández-de la Torre, Carmen Fiuza-Luces, Pedro L. Valenzuela, Sara Laine-Menéndez, Joaquín Arenas, Miguel A. Martín, Doug M. Turnbull, Alejandro Lucia, María Morán
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
AimCerebellar neurodegeneration is a main phenotypic manifestation of mitochondrial disorders caused by apoptosis-inducing factor (AIF) deficiency. We assessed the effects of an exercise training intervention at the cerebellum and brain level in a mo
Externí odkaz:
https://doaj.org/article/ba6d80a1687e4c84820f3663f5fc8568
Publikováno v:
Wellcome Open Research, Vol 5 (2020)
Mitochondrial vitality is critical to cellular function, with mitochondrial dysfunction linked to a growing number of human diseases. Tissue and cellular heterogeneity, in terms of genetics, dynamics and function means that increasingly mitochondrial
Externí odkaz:
https://doaj.org/article/303c8400a5c44b28a56650493a7a546d