Results 81 to 90 of about 5,767 (207)

Zum Mechanismus der 2-Hydroxyglutaryl-CoA Dehydratase aus Clostridium symbiosum [PDF]

, 2004
Das 2-Hydroxyglutaryl-CoA-Dehydratase-System ist das Schlüsselenzym in der Fermentation von Glutamat zu Acetat, Butyrat, CO2 und H2 durch Clostridium symbiosum und Acidaminococcus fermentans. Die Dehydratase katalysiert die syn-Dehydratisierung von (R)-2-
Buckel, Wolfgang, Hetzel, Marc
core   +1 more source

Oxidative Stress, Antioxidant Capacity, Dyslipidemia and Cardiovascular Risk in Sickle Cell Disease: A Systematic Review and Meta‐Analysis

The Scientific World Journal, Volume 2026, Issue 1, 2026.
Background Sickle cell disease is a human hemoglobinopathy associated with high hemolytic capacity. Hemoglobin S (HbS) polymerization is a primary pathophysiological event in sickle cell anemia. Despite numerous studies conducted to understand the pathophysiology of the disease, including oxidative imbalance and cardiovascular risk, questions still ...
Josué Louokdom Simo, Romaric De Manfouo Tuono, Maryline Seuko Njopwouo, Claude Tagny Tayou, Cristiana Corsi   +4 more
wiley   +1 more source

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

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

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 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

CoQ10 and Aging. [PDF]

, 2019
The aging process includes impairment in mitochondrial function, a reduction in anti-oxidant activity, and an increase in oxidative stress, marked by an increase in reactive oxygen species (ROS) production.
Barcelos, Isabella Peixoto de, Haas, Richard H   +1 more
core   +1 more source

Precise Similarity of Many Human Proteins to Proteins of Prokarya [PDF]

, 2007
Proteins originated in early forms of life and have long survived, because they have always been required. Some recognizably similar proteins are found in all sequence comparisons between species, no matter how distant, including prokaryotes and ...
Roy Britten
core   +2 more sources

Glutaric aciduria type 1: a review of phenotypic and genetic characteristics

Journal of Biochemical and Clinical Genetics, 2019
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity ...
Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada   +2 more
doaj   +1 more source