Doug M Turnbull
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Explore the profile of Doug M Turnbull including associated specialties, affiliations and a list of published articles.
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141
Citations
5548
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Recent Articles
1.
Hipps D, Pyle A, Porter A, Dobson P, Tuppen H, Lawless C, et al.
Sci Rep
. 2024 Sep;
14(1):20989.
PMID: 39251776
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...
2.
Houghton D, Ng Y, Jackson M, Stefanetti R, Hynd P, Mac Aogain M, et al.
Gastro Hep Adv
. 2024 Aug;
1(4):666-677.
PMID: 39132075
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...
3.
Olkhova E, Bradshaw C, Blain A, Alvim D, Turnbull D, LeBeau F, et al.
Commun Biol
. 2023 Oct;
6(1):1078.
PMID: 37872380
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...
4.
Ng Y, Turnbull D
Cell Metab
. 2022 Dec;
34(12):1901-1903.
PMID: 36476932
Mitochondrial genetic diseases are a very diverse group of conditions. A recent report by Mootha and colleagues in NEJM describes the underlying genetic defect and clinical findings in monozygotic twins...
5.
Franco M, Pickett S, Fleischmann Z, Khrapko M, Cote-LHeureux A, Aidlen D, et al.
Hum Mol Genet
. 2022 Jul;
31(23):4075-4086.
PMID: 35849052
The A-to-G point mutation at position 3243 in the human mitochondrial genome (m.3243A > G) is the most common pathogenic mtDNA variant responsible for disease in humans. It is widely...
6.
Ng Y, Lim A, Panagiotou G, Turnbull D, Walker M
Endocr Rev
. 2022 May;
43(3):583-609.
PMID: 35552684
Mitochondrial diseases are a group of common inherited diseases causing disruption of oxidative phosphorylation. Some patients with mitochondrial disease have endocrine manifestations, with diabetes mellitus being predominant but also include...
7.
Sachdeva A, Hart C, Carey C, Vincent A, Greaves L, Heer R, et al.
Sci Rep
. 2022 Apr;
12(1):6660.
PMID: 35459777
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...
8.
Bury A, Pyle A, Marcuccio F, Turnbull D, Vincent A, Hudson G, et al.
Anal Bioanal Chem
. 2022 Mar;
414(18):5483-5492.
PMID: 35233697
Intracellular heterogeneity contributes significantly to cellular physiology and, in a number of debilitating diseases, cellular pathophysiology. This is greatly influenced by distinct organelle populations and to understand the aetiology of...
9.
Hipps D, Dobson P, Warren C, McDonald D, Fuller A, Filby A, et al.
Bone
. 2022 Feb;
158:116371.
PMID: 35192969
Osteoporosis is a skeletal disease which is characterised by reduced bone mass and microarchitecture, with a subsequent loss of strength that predisposes to fragility and risk of fractures. The pathogenesis...
10.
Smith A, Whitehall J, Bradshaw C, Gay D, Robertson F, Blain A, et al.
Nat Cancer
. 2022 Feb;
2(1):129.
PMID: 35121898
No abstract available.