Results 61 to 70 of about 3,031 (152)

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

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

Cloning, Structure, and Chromosome Localization of the Mouse Glutaryl-CoA Dehydrogenase Gene

Genomics, 1995
Glutaryl-CoA dehydrogenase (GCDH) is a nuclear-encoded, mitochondrial matrix enzyme. In humans, deficiency of GCDH leads to glutaric acidemia type I, an inherited disorder of amino acid metabolism characterized by a progressive neurodegenerative disease. In this report we describe the cloning and structure of the mouse GCDH (Gcdh) gene and cDNA and its
D M, Koeller, K A, DiGiulio, S V, Angeloni, L L, Dowler, F E, Frerman, R A, White, S I, Goodman   +6 more
openaire   +2 more sources

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes

Italian Journal of Pediatrics
Background Glutaric acidemia type 1 (GA1) is a rare but treatable autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the GCDH gene.
Arzu Selamioğlu, Melda İdrisoğlu, Şebnem Kılıç, Dilek Güneş, Meryem Karaca, Mehmet Cihan Balcı, Nafiye Emel Çakar, Fatmahan Atalar, Asuman Gedikbaşı, Gülden Gökçay   +9 more
doaj   +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

Autoreactive and parasite-specific IgG repertoires in asymptomatic and mild Plasmodium falciparum infection in Côte d’Ivoire

Parasites & Vectors
Background Naturally acquired immunity to Plasmodium falciparum involves parasite-specific antibodies as well as autoreactive responses that may contribute to immune regulation and tolerance.
David Koffi, Nicolas Tchitchek, Fabien Herbert, Landry Tiacoh, André Offianan Touré, Ronald Perraut, Joseph Djaman, Sylviane Pied   +7 more
doaj   +1 more source

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

Allopregnanolone promotes regeneration and reduces β-amyloid burden in a preclinical model of Alzheimer's disease.

PLoS ONE, 2011
Previously, we demonstrated that allopregnanolone (APα) promoted proliferation of rodent and human neural progenitor cells in vitro. Further, we demonstrated that APα promoted neurogenesis in the hippocampal subgranular zone (SGZ) and reversed learning ...
Shuhua Chen, Jun Ming Wang, Ronald W Irwin, Jia Yao, Lifei Liu, Roberta Diaz Brinton   +5 more
doaj   +1 more source

Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice. [PDF]

J Biol Chem, 2022
Bhatt DP, Mills CA, Anderson KA, Henriques BJ, Lucas TG, Francisco S, Liu J, Ilkayeva OR, Adams AE, Kulkarni SR, Backos DS, Major MB, Grimsrud PA, Gomes CM, Hirschey MD.   +14 more
europepmc   +1 more source

3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells

Neurobiology of Disease, 2004
Glutaric aciduria type I (GA I) is an autosomal recessive inherited metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCD) resulting in the accumulation of 3-hydroxyglutaric acid (3OHG), glutaric acid and glutaconic acid in body ...
F Freudenberg, Z Lukacs, K Ullrich
doaj   +1 more source