Results 81 to 90 of about 5,746 (195)

Undercover: Gene control by metabolites and metabolic enzymes [PDF]

, 2016
To make the appropriate developmental decisions or maintain homeostasis, cells and organisms must coordinate the expression of their genome and metabolic state. However, the molecular mechanisms that relay environmental cues such as nutrient availability
Knaap, J.A. (Jan) van der, Verrijzer, C.P. (Peter)   +1 more
core   +2 more sources

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Orphanet Journal of Rare Diseases, 2021
Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene.
Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen   +6 more
doaj   +1 more source

Comparison of Cholesterol Lowering Diets: Apple, Casein Cytochrom P450 protein and Cholesterol 7α Hydroxylase Activities in Hamsters [PDF]

, 2010
Lithogenic diet, casein and apple fiber diets were fed to hamsters for 3-5 weeks. For control group, animals were fed on normal Purina chow without any supplement.
Rakesh Sharma, Rakesh K. Tandon
core   +2 more sources

Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice

Life Sciences, 2013
The establishment of a genetic knockout murine model of glutaric acidemia type I (GAI) with complete loss of glutaryl-CoA dehydrogenase (GCDH) activity has been used to investigate the pathological mechanisms underlying neurological symptoms in this disorder. However, very little has been reported on the neurobehavior of GCDH deficient mice (Gcdh(-/-)).
Busanello, Estela Natacha Brandt, Pettenuzzo, Letícia, Botton, Paulo Henrique, Pandolfo, Pablo, de Souza, Diogo Onofre Gomes, Woontner, Michael, Goodman, Stephen, Koeller, David, Wajner, Moacir   +8 more
openaire   +2 more sources

Cardiomyocyte‐Specific Deletion of Sirtuin 5 Accelerates the Development of Heart Failure Upon Dysregulating Purine Metabolism

Acta Physiologica, Volume 241, Issue 11, November 2025.
ABSTRACT Aim Sirtuin 5 (SIRT5), a mitochondrial NAD+‐dependent deacylase, regulates fundamental cellular pathways, including energy substrate metabolism. The current study is designed to better elucidate the role of SIRT5 in the development of heart failure (HF). Methods Mice with cardiomyocyte‐specific deletion (cSirt5−/−) or overexpression (cSirt5‐Tg)
Nikole J. Byrne, Christoph Koentges, Katharina Pfeil, Julia C. Lueg, Sayan Bakshi, Aleksandre Tarkhnishvili, Ivan Vosko, Johannes Gollmer, Laura C. Birkle, Thomas Rathner, Stephan Birkle, Sibai Tang, Clara Rau, Michael M. Hoffmann, Katja E. Odening, Stephen Barnes, Landon Shay Wilson, Senka Ljubojevic‐Holzer, Markus Wallner, Dirk von Lewinski, Peter Rainer, Simon Sedej, Harald Sourij, Christoph Bode, Adam R. Wende, Andreas Zirlik, Heiko Bugger   +26 more
wiley   +1 more source

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders

Orphanet Journal of Rare Diseases, 2020
Background Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrate.
Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus, Michel Tchan   +7 more
doaj   +1 more source

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Orphanet Journal of Rare Diseases, 2023
Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu   +7 more
doaj   +1 more source

Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

Genetic basis of hyperlysinemia [PDF]

, 2013
Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported.
Augoustides-Savvopoulou, P. (Persa), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Denis, S. (Simone), Duran, M. (Marinus), Houten, S.M. (Sander M.), Häberle, J. (Johannes), Klerk, J.B.C. (Johannes) de, Knegt, A.C. (Alida), Poll-The, B.T., Ruiter, J.P.N. (Jos), Sass, J.O. (Jörn Oliver), Te Brinke, H. (Heleen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes)   +14 more
core   +1 more source

Cardiovascular Disease Meets Cancer: Exploring the Epidemiology in China and Homotherapy Targeting Intersectional Mechanisms

Advanced Science, Volume 12, Issue 37, October 6, 2025.
Cardiovascular disease (CVD) and cancer are leading causes of death worldwide, with overlapping risk factors and pathophysiological mechanisms. This review explores shared pathways, including metabolic dysregulation, chronic inflammation, and gut microbiome alterations, highlighting dual‐benefit strategies such as lifestyle modifications and repurposed
Shihan Xiang, Yujie Shan, Shihong Xu, Jing Wang, Meng Luo, Jiaojiao Zhou, Qishan Chen   +6 more
wiley   +1 more source