Results 31 to 40 of about 2,273 (178)

Effects of targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated shRNA and excessive intake of lysine on apoptosis in rat striatal neurons. [PDF]

PLoS ONE, 2013
In glutaric aciduria type 1 (GA1), glutaryl-CoA dehydrogenase (GCDH) deficiency has been shown to be responsible for the accumulation of glutaric acid and striatal degeneration.
Jinzhi Gao, Cai Zhang, Xi Fu, Qin Yi, Fengyan Tian, Qin Ning, Xiaoping Luo   +6 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

Clinical and Mutational Analysis of theGCDHGene in Malaysian Patients with Glutaric Aciduria Type 1 [PDF]

BioMed Research International, 2016
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by theGCDHgene. In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia.
Siti Aishah Abdul Wahab, Yusnita Yakob, Nor Azimah Abdul Azize, Zabedah Md Yunus, Leong Huey Yin, Mohd Khairul Nizam Mohd Khalid, Ngu Lock Hock   +6 more
openaire   +2 more sources

Anterior cervical discectomy and fusion for the treatment of giant cervical disc herniation

Journal of Orthopaedic Surgery and Research, 2023
Objective Giant cervical disc herniation (GCDH) was defined as a herniated intervertebral disc that accounted for more than 50% of the spinal canal. The purpose of this study was to analyse the feasibility of anterior cervical discectomy and fusion (ACDF)
Weibin Liang, Yu Xiong, Yukun Jia, Shaoqiang Li, Kaishuai Zhao, Zhan Peng, Guangye Wang   +6 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

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH) [PDF]

Human Molecular Genetics, 2008
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH), leading to an accumulation and high excretion of glutaric acid and 3-hydroxyglutaric acid. Considerable variation in severity of the clinical phenotype is observed with no correlation to the genotype.
Keyser, B., Muhlhausen, C., Dickmanns, A., Muschol, N., Ullrich, K., Braulke, T., Christensen, Ernst   +6 more
openaire   +3 more sources

Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues [PDF]

Neuroscience, 2017
Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests with acute encephalopathic crises and striatal neuronal death in early childhood leading to an ...
Braissant, Olivier, Jafari, Paris, Remacle, Noémie, Cudré-Cung, Hong-Phuc, Do Vale Pereira, Sonia, Ballhausen, Diana   +5 more
openaire   +2 more sources

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

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

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients [PDF]

, 2016
Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs.
Rijn, R.R. (Rick) van, Spronsen, F.J. van, Vester, M.E.M. (Marloes E.M.), Visser, G. (G.), Wijburg, F.A. (Frits), Williams, M. (Martine)   +5 more
core   +1 more source