Results 101 to 110 of about 5,767 (207)

Cancer Metabolism: A Modeling Perspective [PDF]

, 2015
Tumor cells alter their metabolism to maintain unregulated cellular proliferation and survival, but this transformation leaves them reliant on constant supply of nutrients and energy.
Ghaffari, Pouyan, Mardinoglu, Adil, Nielsen, Jens   +2 more
core   +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 Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Journal of Pediatric Research, 2018
Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues ...
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker   +11 more
doaj   +1 more source

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.

PLoS ONE, 2014
We determined mRNA expression of the ionotropic glutamate receptors NMDA (NR1, NR2A and NR2B subunits), AMPA (GluR2 subunit) and kainate (GluR6 subunit), as well as of the glutamate transporters GLAST and GLT1 in cerebral cortex and striatum of wild type
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M Koeller, Michael Woontner, Stephen I Goodman, Diogo Onofre Gomes de Souza, Moacir Wajner   +9 more
doaj   +1 more source

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, Piercy, Hilary, Yap, Sufin, Yeo, Mildrid   +3 more
core   +1 more source

Proteomic changes associated with deletion of the Magnaporthe oryzae conidial morphology-regulating gene COM1 [PDF]

, 2010
Background The rice blast disease caused by Magnaporthe oryzae is a major constraint on world rice production. The conidia produced by this fungal pathogen are the main source of disease dissemination.
Vijai Bhadauria, Li-Xia Wang, You-Liang Peng   +2 more
core   +2 more sources

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report [PDF]

, 2007
Background 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine.
Oivind J. Kanavin, Berit Woldseth, Egil Jellum, Bjorn Tvedt, Brage S. Andresen, Petter Stromme, BS Andresen, KM Gibson, R Rozen, SH Korman, PP Madsen, C Lord, P Stromme, E Jellum, R Ensenauer, VR Sutton, D Matern, BS Andresen, SH Korman, L Waddell, SH Korman   +20 more
core   +2 more sources

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management

Acta Médica Portuguesa
Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, Patrícia Janeiro, Ana Gaspar   +4 more
doaj   +1 more source

Microbial diversity and metabolic pathways linked to benzene degradation in petrochemical-polluted groundwater

Environment International
The rapid advance in shotgun metagenome sequencing has enabled us to identify uncultivated functional microorganisms in polluted environments. While aerobic petrochemical-degrading pathways have been extensively studied, the anaerobic mechanisms remain ...
Ruihuan Zhang, Zhencheng Ye, Xue Guo, Yunfeng Yang, Guanghe Li   +4 more
doaj   +1 more source

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
doaj   +1 more source