Results 11 to 20 of about 10,242,723 (401)

Mitochondrial disease in children [PDF]

Journal of Internal Medicine, 2020
Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. Some children are affected by canonical syndromes, but the majority have nonclassical multisystemic disease presentations involving virtually ...
S. Rahman
semanticscholar   +4 more sources

The biology of mitochondrial disease [PDF]

Archives of Disease in Childhood, 2000
Mitochondria are subcellular organelles that constitute a metabolic compartment separated from the general cytoplasm by a double layered membrane. The outer membrane serves to regulate access of proteins and metabolites to the mitochondrial compartment, and the convoluted inner mitochondrial membrane is the site of several multicomponent enzyme systems.
Alan R. Clarke
openalex   +5 more sources

Complete mitochondrial genome of the Verticillium-wilt causing plant pathogen Verticillium nonalfalfae [PDF]

, 2016
Verticillium nonalfalfae is a fungal plant pathogen that causes wilt disease by colonizing the vascular tissues of host plants. The disease induced by hop isolates of V. nonalfalfae manifests in two different forms, ranging from mild symptoms to complete
de Jonge, Ronnie, Jakše, Jernej, Javornik, Branka, Jelen, Vid, Van de Peer, Yves   +4 more
core   +21 more sources

A mitochondrial SCF‐FBXL4 ubiquitin E3 ligase complex degrades BNIP3 and NIX to restrain mitophagy and prevent mitochondrial disease

EMBO Journal, 2023
Mitophagy is a fundamental quality control mechanism of mitochondria. Its regulatory mechanisms and pathological implications remain poorly understood.
Yu Cao, Jing Zheng, Huayun Wan, Yuqiu Sun, Song Fu, Shanshan Liu, Baiyu He, Gaihong Cai, Yang Cao, Huanwei Huang, Qi Li, Yan Ma, She Chen, Fengchao Wang, Hui Jiang   +14 more
semanticscholar   +1 more source

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

European Journal of Human Genetics, 2022
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause ...
E. Mavraki, R. Labrum, K. Sergeant, C. Alston, C. Woodward, Conrad Smith, Charlotte V. Y. Knowles, Y. Patel, P. Hodsdon, Jack P. Baines, E. Blakely, J. Polke, R. Taylor, C. Fratter   +13 more
semanticscholar   +1 more source

The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence

Orphanet Journal of Rare Diseases, 2022
Background Genetic mitochondrial diseases represent a significant challenge to human health. These diseases are extraordinarily heterogeneous in clinical presentation and genetic origin, and often involve multi-system disease with severe progressive ...
Allison R. Hanaford, Simon C. Johnson
semanticscholar   +1 more source

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Journal of Clinical Investigation, 2021
Mitochondrial disorders represent a large collection of rare syndromes that are difficult to manage both because we do not fully understand biochemical pathogenesis and because we currently lack facile markers of severity.
Rohit Sharma, Bryn Reinstadler, K. Engelstad, Owen S. Skinner, Erin Stackowitz, R. Haller, C. Clish, K. Pierce, M. Walker, R. Fryer, D. Oglesbee, X. Mao, D. Shungu, A. Khatri, M. Hirano, D. D. De Vivo, V. Mootha   +16 more
semanticscholar   +1 more source

Mitochondrial diseases [PDF]

Nature Reviews Disease Primers, 2016
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function.
Gorman G. S., Chinnery P. F., DiMauro S., Hirano M., Koga Y., McFarland R., Suomalainen A., Thorburn D. R., Zeviani M., Turnbull D. M.   +9 more
openaire   +5 more sources

Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

Journal of Primary Care & Community Health, 2023
Primary mitochondrial myopathies (PMM) are rare disorders with diverse and progressive symptom presentations that cause a substantial, detrimental impact on the quality of life of patients and their caregivers.
Margaret Moore, Philip Yeske, Sumit Parikh   +2 more
doaj   +1 more source

Current and Emerging Clinical Treatment in Mitochondrial Disease

Molecular Diagnosis & Therapy, 2021
Primary mitochondrial disease (PMD) is a group of complex genetic disorders that arise due to pathogenic variants in nuclear or mitochondrial genomes.
R. Tinker, A. Lim, R. Stefanetti, R. Mcfarland   +3 more
semanticscholar   +1 more source