Role of amino acid metabolism in mitochondrial homeostasis

Q Li, T Hoppe - Frontiers in Cell and Developmental Biology, 2023 - frontiersin.org
Mitochondria are central hubs for energy production, metabolism and cellular signal
transduction in eukaryotic cells. Maintenance of mitochondrial homeostasis is important for …

[HTML][HTML] Biomarkers of mitochondrial disorders

BJ Shayota - Neurotherapeutics, 2024 - Elsevier
Mitochondrial diseases encompass a heterogeneous group of disorders with a wide range
of clinical manifestations, most classically resulting in neurological, muscular, and metabolic …

Mitochondrial dysfunction remodels one-carbon metabolism in human cells

XR Bao, SE Ong, O Goldberger, J Peng, R Sharma… - elife, 2016 - elifesciences.org
Mitochondrial dysfunction is associated with a spectrum of human disorders, ranging from
rare, inborn errors of metabolism to common, age-associated diseases such as …

[HTML][HTML] Blood biomarkers for assessment of mitochondrial dysfunction: An expert review

WHG Hubens, A Vallbona-Garcia, IFM De Coo… - Mitochondrion, 2022 - Elsevier
Although mitochondrial dysfunction is the known cause of primary mitochondrial disease,
mitochondrial dysfunction is often difficult to measure and prove, especially when biopsies of …

Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention

MAE Van De Wal, MJW Adjobo-Hermans, J Keijer… - Brain, 2022 - academic.oup.com
Mitochondria are small cellular constituents that generate cellular energy (ATP) by oxidative
phosphorylation (OXPHOS). Dysfunction of these organelles is linked to a heterogeneous …

[HTML][HTML] Biomarker research in Parkinson's disease using metabolite profiling

JF Havelund, NHH Heegaard, NJK Færgeman… - Metabolites, 2017 - mdpi.com
Biomarker research in Parkinson's disease (PD) has long been dominated by measuring
dopamine metabolites or alpha-synuclein in cerebrospinal fluid. However, these markers do …

A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome

JT Legault, L Strittmatter, J Tardif, R Sharma… - Cell reports, 2015 - cell.com
A decline in mitochondrial respiration represents the root cause of a large number of inborn
errors of metabolism. It is also associated with common age-associated diseases and the …

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases

RL Davis, C Liang, CM Sue - Neurology, 2016 - neurology.org
Objective: To directly compare the diagnostic utility of growth differentiation factor–15 (GDF-
15) with our previous fibroblast growth factor–21 (FGF-21) findings in the same adult …

[HTML][HTML] Primary pyruvate dehydrogenase complex deficiency overview

R Ganetzky, EM McCormick, MJ Falk - GeneReviews®[Internet], 2021 - ncbi.nlm.nih.gov
Primary Pyruvate Dehydrogenase Complex Deficiency Overview - GeneReviews® - NCBI
Bookshelf US flag An official website of the United States government Here's how you know …

[HTML][HTML] Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine

AL Gropman, MN Uittenbogaard, AE Chiaramello - Neurotherapeutics, 2024 - Elsevier
Mitochondrial disorders are a group of rare and heterogeneous genetic diseases
characterized by dysfunctional mitochondria leading to deficient adenosine triphosphate …