Pavel A Nash
Overview
Explore the profile of Pavel A Nash including associated specialties, affiliations and a list of published articles.
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5
Citations
57
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Recent Articles
1.
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Van Haute L, Palenikova P, Tang J, Nash P, Simon M, Pyle A, et al.
EMBO Mol Med
. 2024 Nov;
17(1):193-210.
PMID: 39567835
Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of...
2.
Nash P, Silva-Pinheiro P, Minczuk M
J Vis Exp
. 2023 Feb;
(192).
PMID: 36847373
Mutations in the mitochondrial genome (mtDNA) have been associated with maternally inherited genetic diseases. However, interest in mtDNA polymorphisms has increased in recent years due to the recently developed ability...
3.
Nash P, Minczuk M
Methods Mol Biol
. 2023 Feb;
2615:329-344.
PMID: 36807802
Mouse models of mitochondrial DNA mutations hold promise in the development and optimization of mitochondrial gene therapy technology and for gathering pre-clinical data prior to human trials. Their suitability for...
4.
Silva-Pinheiro P, Mutti C, Van Haute L, Powell C, Nash P, Turner K, et al.
Nat Biomed Eng
. 2022 Dec;
7(5):692-703.
PMID: 36470976
The development of curative treatments for mitochondrial diseases, which are often caused by mutations in mitochondrial DNA (mtDNA) that impair energy metabolism and other aspects of cellular homoeostasis, is hindered...
5.
Silva-Pinheiro P, Nash P, Van Haute L, Mutti C, Turner K, Minczuk M
Nat Commun
. 2022 Feb;
13(1):750.
PMID: 35136065
Mitochondria host key metabolic processes vital for cellular energy provision and are central to cell fate decisions. They are subjected to unique genetic control by both nuclear DNA and their...