Cardiac complications of propionic and other inherited organic acidemias

KC Park, S Krywawych, E Richard… - Frontiers in …, 2020 - frontiersin.org
Clinical observations and experimental studies have determined that systemic acid-base
disturbances can profoundly affect the heart. A wealth of information is available on the …

3-Methylglutaric acid in energy metabolism

DE Jones, L Perez, RO Ryan - Clinica Chimica Acta, 2020 - Elsevier
methylglutaric (3MG) acid is a conspicuous C6 dicarboxylic organic acid classically
associated with two distinct leucine pathway enzyme deficiencies. 3MG acid is excreted in …

[HTML][HTML] Fasting induces a highly resilient deep quiescent state in muscle stem cells via ketone body signaling

DI Benjamin, P Both, JS Benjamin, CW Nutter, JH Tan… - Cell metabolism, 2022 - cell.com
Short-term fasting is beneficial for the regeneration of multiple tissue types. However, the
effects of fasting on muscle regeneration are largely unknown. Here, we report that fasting …

Insights into genetic variants associated with NASH-fibrosis from metabolite profiling

JP Mann, M Pietzner, LB Wittemans… - Human molecular …, 2020 - academic.oup.com
Several genetic discoveries robustly implicate five single-nucleotide variants in the
progression of non-alcoholic fatty liver disease to non-alcoholic steatohepatitis and fibrosis …

Alternate‐Day Ketogenic Diet Feeding Protects against Heart Failure through Preservation of Ketogenesis in the Liver

Y Guo, X Liu, T Li, J Zhao, Y Yang… - Oxidative Medicine …, 2022 - Wiley Online Library
As heart failure develops, the heart utilizes ketone bodies at increased rates, indicating an
adaptive stress response. Thus, increasing ketone body availability exerts protective effects …

[HTML][HTML] A comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway

A Mazein, S Watterson, WY Hsieh, WJ Griffiths… - Biochemical …, 2013 - Elsevier
Cholesterol biosynthesis serves as a central metabolic hub for numerous biological
processes in health and disease. A detailed, integrative single-view description of how the …

Uncovering mechanisms of rubber biosynthesis in Taraxacum koksaghyz – role of cis‐prenyltransferase‐like 1 protein

E Niephaus, B Müller, N van Deenen… - The Plant …, 2019 - Wiley Online Library
Summary The Russian dandelion Taraxacum koksaghyz synthesizes considerable amounts
of high‐molecular‐weight rubber in its roots. The characterization of factors that participate …

[图书][B] Atlas of inherited metabolic diseases

WL Nyhan, GF Hoffmann - 2020 - books.google.com
In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: clinical presentation and outcome in a series of 37 patients

SC Grünert, SM Schlatter, RN Schmitt… - Molecular genetics and …, 2017 - Elsevier
Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of
ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene …

[HTML][HTML] Inborn errors of ketogenesis and ketone body utilization

JO Sass - Journal of inherited metabolic disease, 2012 - Springer
Ketone bodies acetoacetate and 3-hydroxy-n-butyric acid are metabolites derived from fatty
acids and ketogenic amino acids such as leucine. They are mainly produced in the liver via …