Results 1 to 10 of about 9,815,644 (217)

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

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

Correction to: Metabolic features of recurrent major depressive disorder in remission, and the risk of future recurrence

Translational Psychiatry, 2021
A Correction to this paper has been published: https://doi.org/10.1038/s41398-021-01239 ...
Roel J. T. Mocking, Jane C. Naviaux, Kefeng Li, Lin Wang, Jonathan M. Monk, A. Taylor Bright, Caroline A. Figueroa, Aart H. Schene, Henricus G. Ruhé, Johanna Assies, Robert K. Naviaux   +10 more
doaj   +1 more source

Metabolic features of recurrent major depressive disorder in remission, and the risk of future recurrence

Translational Psychiatry, 2021
Recurrent major depressive disorder (rMDD) is a relapsing-remitting disease with high morbidity and a 5-year risk of recurrence of up to 80%. This was a prospective pilot study to examine the potential diagnostic and prognostic value of targeted plasma ...
Roel J. T. Mocking, Jane C. Naviaux, Kefeng Li, Lin Wang, Jonathan M. Monk, A. Taylor Bright, Caroline A. Figueroa, Aart H. Schene, Henricus G. Ruhé, Johanna Assies, Robert K. Naviaux   +10 more
doaj   +1 more source

Endocrine Manifestations and New Developments in Mitochondrial Disease

Endocrine reviews, 2021
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 ...
Y. Ng, A. Lim, G. Panagiotou, D. Turnbull, M. Walker   +4 more
semanticscholar   +1 more source

Mitochondrial dynamics in health and disease: mechanisms and potential targets

Signal Transduction and Targeted Therapy, 2023
Mitochondria are organelles that are able to adjust and respond to different stressors and metabolic needs within a cell, showcasing their plasticity and dynamic nature.
Wen Chen, Huakan Zhao, Yongsheng Li
semanticscholar   +1 more source