Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
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) …

Mitochondrial diseases: the contribution of organelle stress responses to pathology

A Suomalainen, BJ Battersby - Nature reviews Molecular cell biology, 2018 - nature.com
Mitochondrial diseases affect one in 2,000 individuals; they can present at any age and they
can manifest in any organ. How defects in mitochondria can cause such a diverse range of …

POLG-related disorders and their neurological manifestations

S Rahman, WC Copeland - Nature Reviews Neurology, 2019 - nature.com
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

Crosstalk between mitochondrial dysfunction, oxidative stress, and age related neurodegenerative disease: Etiologies and therapeutic strategies

HA Elfawy, B Das - Life sciences, 2019 - Elsevier
Mitochondrial function is vital for normal cellular processes. Mitochondrial damage and
oxidative stress have been greatly implicated in the progression of aging, along with the …

Implicating the effect of ketogenic diet as a preventive measure to obesity and diabetes mellitus

S Kumar, T Behl, M Sachdeva, A Sehgal, S Kumari… - Life sciences, 2021 - Elsevier
Obesity and diabetes are the two major metabolic complications linked with bad eating
habits and the sedentary (lazy) lifestyle. In the worst-case situation, metabolic problems are …

mTORC1 regulates mitochondrial integrated stress response and mitochondrial myopathy progression

NA Khan, J Nikkanen, S Yatsuga, C Jackson, L Wang… - Cell metabolism, 2017 - cell.com
Mitochondrial dysfunction elicits various stress responses in different model systems, but
how these responses relate to each other and contribute to mitochondrial disease has …

Ketone bodies as signaling metabolites

JC Newman, E Verdin - Trends in Endocrinology & Metabolism, 2014 - cell.com
Traditionally, the ketone body β-hydroxybutyrate (βOHB) has been looked upon as a carrier
of energy from liver to peripheral tissues during fasting or exercise. However, βOHB also …

Comprehensive analysis of lipids in biological systems by liquid chromatography-mass spectrometry

T Cajka, O Fiehn - TrAC Trends in Analytical Chemistry, 2014 - Elsevier
Liquid chromatography-mass spectrometry (LC-MS)-based lipidomics has undergone
dramatic developments over the past decade. This review focuses on state of the art in LC …

Nutritional ketosis for weight management and reversal of metabolic syndrome

VM Gershuni, SL Yan, V Medici - Current nutrition reports, 2018 - Springer
Abstract Purpose of Review The goal of this paper is to review current literature on
nutritional ketosis within the context of weight management and metabolic syndrome …

Mitochondria: in sickness and in health

J Nunnari, A Suomalainen - Cell, 2012 - cell.com
Mitochondria perform diverse yet interconnected functions, producing ATP and many
biosynthetic intermediates while also contributing to cellular stress responses such as …