Results 71 to 80 of about 5,746 (195)
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
Advanced Science, Volume 13, Issue 4, 19 January 2026.Wei et al. report that MPXV infection induces aerobic glycolysis, a process mediated by the viral protein I3 through lysine crotonylation at its K102 residue. The acetyltransferase MYST1 catalyzes the crotonylation of I3 to inhibit the ubiquitin‐mediated degradation of WDR26.
Pengjun Wei +12 more
wiley +1 more source
A Case of Glutaric Aciduria Type I with a Novel Mutation
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal +4 more
doaj
Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]
, 2015 This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
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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 +21 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the ...
Felix-Julian Campos-Garcia +8 more
doaj +1 more source
Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I [PDF]
, 2007 Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in
Garcia-de-Eulate, R. (Reyes) +4 more
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What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]
, 2019 BACKGROUND: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hart, Anthony R +3 more
core +1 more source
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency [PDF]
Brain, 2007 Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants
Kevin A, Strauss +3 more
openaire +2 more sources
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]
PLoS ONE, 2013 Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari +5 more
doaj +1 more source