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10187 6/Z/13/Z

Funded outputs count: 110
Funder award ID: 10187 6/Z/13/Z
OpenAlex ID: G4335143496
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
2023 · Alexander G. Murley, Yu Nie, et al. · Neurology Genetics · 4
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Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
2022 · Wei Wei, Katherine R. Schon, et al. · Nature · 250
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Cell-Free Mitochondrial DNA in Acute Brain Injury
2022 · Saeed Kayhanian, Angelos Glynos, et al. · Neurotrauma Reports · 12
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission
2021 · Haixin Zhang, Marco Esposito, et al. · Science Advances · 41
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.
2021 · Zhang, Haixin, Esposito, Marco, et al. · Apollo (University of Cambridge)
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases
2021 · Na Cai, Aurora Gomez-Duran, et al. · Nature Medicine · 73
Metabolic effects of bezafibrate in mitochondrial disease
2020 · Hannah Steele, Aurora Gomez‐Duran, et al. · EMBO Molecular Medicine · 82
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Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila
2019 · Simonetta Andreazza, Colby L. Samstag, et al. · Nature Communications · 49
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Germline selection shapes human mitochondrial DNA diversity
2019 · Wei Wei, Salih Tuna, et al. · Science · 237
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A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts
2019 · Anna L. Guyatt, Rebecca R. Brennan, et al. · Human Genomics · 37
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
2019 · Sumit Parikh, Amel Karaa, et al. · Journal of Medical Genetics · 65
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Oldies but Goldies mtDNA Population Variants and Neurodegenerative Diseases
2018 · Patrick F. Chinnery, Aurora Gomez-Duran · Frontiers in Neuroscience · 64
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High prevalence of focal and multi-focal somatic genetic variants in the human brain
2018 · Michael J. Keogh, Wei Wei, et al. · Nature Communications · 74
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Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses
2018 · John D. Widdrington, Aurora Gomez-Duran, et al. · Frontiers in Immunology · 72
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Frequency and signature of somatic variants in 1461 human brain exomes
2018 · Wei Wei, Michael J. Keogh, et al. · Genetics in Medicine · 29
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
2018 · Gaël Nicolas, Rocío Acuña‐Hidalgo, et al. · Alzheimer s & Dementia · 81
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Oxygen in mitochondrial disease: can there be too much of a good thing?
2018 · Vamsi K. Mootha, Patrick F. Chinnery · Journal of Inherited Metabolic Disease · 12
The mitochondrial DNA genetic bottleneck: inheritance and beyond
2018 · Haixin Zhang, Stephen P. Burr, et al. · Essays in Biochemistry · 120
Mutation-specific effects in germline transmission of pathogenic mtDNA variants
2018 · Auke B C Otten, Suzanne C E H Sallevelt, et al. · Human Reproduction · 51
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
2018 · Boglarka Bansagi, Vietxuan Phan, et al. · Neurology · 10
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Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1
2018 · Mindaugas Jonikas, Martin Madill, et al. · Annals of Neurology · 31
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Retrospective natural history of thymidine kinase 2 deficiency
2018 · Caterina Garone, Robert W Taylor, et al. · Journal of Medical Genetics · 112
Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions
2018 · David Bargiela, Stephen P. Burr, et al. · Trends in Endocrinology and Metabolism · 60
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
2018 · Yi Shiau Ng, Nichola Z. Lax, et al. · EBioMedicine · 68
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A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
2018 · Marina Bartsakoulia, Angela Pyle, et al. · Human Molecular Genetics · 68
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