Results 81 to 90 of about 5,871 (233)

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

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 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

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), Larrache, J. (Javier), Luis, E. (Esther) de, Narbona, J. (Juan), Zubieta, J.L. (José L.)   +4 more
core  

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

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

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

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

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