Results 31 to 40 of about 6,761,337 (191)

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

, 2022
A wide range of protein acyl modifications has been identified on enzymes across various metabolic processes; however, the impact of these modifications remains poorly understood.
Adams, Alexander E, Anderson, Kristin A, Backos, Donald S, Bhatt, Dhaval P, Francisco, Sara, Gomes, Cláudio M, Grimsrud, Paul A, Henriques, Bárbara J, Hirschey, Matthew D, Ilkayeva, Olga R, Kulkarni, Shreyas R, Liu, Juan, Lucas, Tânia G, Major, Michael B, Mills, C Allie   +14 more
core   +2 more sources

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

CollapsABEL: An R library for detecting compound heterozygote alleles in genome-wide association studies [PDF]

, 2016
Background: Compound Heterozygosity (CH) in classical genetics is the presence of two different recessive mutations at a particular gene locus. A relaxed form of CH alleles may account for an essential proportion of the missing heritability, i.e ...
Karssen, L.C. (Lennart), Kayser, M.H. (Manfred), Liu, F. (Fan), Zhong, K. (Kaiyin)   +3 more
core   +7 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

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I [PDF]

, 2007
Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease.
Banos, Blemings, Cathy Housman, Colon, Cornford, Daniel, Daniel, Hayashi, Ian Simpson, James P. O’Callaghan, James R. Connor, Jelena Lazovic, Juliet, Kathryn LaNoue, Keith C. Cheng, Kyllerman, Leibel, Lowry, Michael Woontner, Miller, Provencher, Rao, Russell, Russell E. Jacobs, Stephen I. Goodman, Strauss, Strauss, Tews, Vonsattel, William J. Zinnanti, Williamson   +30 more
core   +3 more sources

Glutaryl-CoA dehydrogenase misfolding in glutaric acidemia type 1 [PDF]

, 2023
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso, Madalena, Danecka, Marta K., Gersting, Søren W., Gertzen, Marcus, Muntau, Ania C., Preisler, Heike, Puchwein-Schwepcke, Alexandra F., Reiss, Dunja D., Sturm, Andreas   +8 more
core   +1 more source

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2021
Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society.
Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jinling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei, Ren Cai   +10 more
doaj   +1 more source

Practical aspects of therapy for glutaric aciduria type 1

Нервно-мышечные болезни, 2021
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the ...
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva   +15 more
doaj   +1 more source

Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans [PDF]

, 2017
Adult height is the most widely genetically studied common trait in humans; however, the trait variance explainable by currently known height-associated single nucleotide polymorphisms (SNPs) identified from the previous genome-wide association studies ...
Drop, S.L.S. (Sten L. S.), Gordon, S.D. (Scott D.), Hendriks, A.E.J. (Emile), Ikram, M.K. (Kamran), Jing, X. (Xiaoxi), Kayser, M.H. (Manfred), Liu, F. (Fan), Martin, N.G. (Nicholas G.), Uitterlinden, A.G. (André), Zeng, C. (Changqing), Zhong, K. (Kaiyin), Zhu, G. (Gu)   +11 more
core   +1 more source

Glutarate regulates T cell metabolism and anti-tumour immunity [PDF]

, 2023
T cell function and fate can be influenced by several metabolites: in some cases, acting through enzymatic inhibition of α-ketoglutarate-dependent dioxygenases, in others, through post-translational modification of lysines in important targets.
Antrobus, Robin, Barbieri, Laura, Bargiela, David, Cunha, Pedro P., Foskolou, Iosifina P., Grice, Guinevere L., Hughes, Rob, Johnson, Randall S., Koivunen, Peppi, Minogue, Eleanor, Nathan, James A., Quaranta, Alessandro, Sah-Teli, Shiv K., Velica, Pedro, Wadsworth, Brennan J., Wheelock, Craig E., Zurita, Javier   +16 more
core   +1 more source