Results 21 to 30 of about 2,273 (178)

Phenotypic and Genotypic Characteristics of Adult‐Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review [PDF]

Brain and Behavior
Introduction Glutaric aciduria Type 1 (GA‐1) is an autosomal recessive inherited disorder caused by GCDH variations. GA‐1 is a rare disease that typically manifests in infancy and early childhood, with adult‐onset cases being even rarer.
Luhua Wei, Jieyu Li, Zhiying Xie, Ying Zhu, Jing Chen, Yawen Zhao, Yun Yuan, Yining Huang, Yanling Yang, Zhaoxia Wang, Jing Chen   +10 more
doaj   +2 more sources

Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH [PDF]

Stem Cell Research
GCDH encodes for the enzyme catalyzing the sixth step of the lysine degradation pathway. Autosomal recessive variants in GCDH are associated with glutaric aciduria type I (GA1), of which a wide genotypic spectrum of pathogenic variants have been ...
Imke M.E. Schuurmans, Clara D.M. van Karnebeek, Anita D.M. Hoogendoorn, Antonia Ribes, Nael Nadif Kasri, Alejandro Garanto   +5 more
doaj   +4 more sources

Expression of cellobiose dehydrogenase gene in Aspergillus niger C112 and its effect on lignocellulose degrading enzymes [PDF]

Frontiers in Microbiology
Cellobiose dehydrogenase (CDH) is one of the cellulase auxiliary proteins, which is widely used in the field of biomass degradation. However, how to efficiently and cheaply apply it in industrial production still needs further research. Aspergillus niger
Yanan Zhong, Zepan Guo, Meiqun Li, Xiaojiang Jia, Baiquan Zeng   +4 more
doaj   +2 more sources

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails [PDF]

Italian Journal of Pediatrics
Background Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging ...
Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D’Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B. Burlina   +8 more
doaj   +2 more sources

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application. [PDF]

Genes (Basel), 2023
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein. Without treatment, this enzyme defect causes a neurological phenotype characterized by movement disorder and ...
Tibelius A, Evers C, Oeser S, Rinke I, Jauch A, Hinderhofer K.   +5 more
europepmc   +3 more sources

Melanoma Addiction to GCDH is Mediated by NRF2 Tumor Suppressor Function [PDF]

, 2021
AbstractTumor dependency on specific metabolic signals has guided numerous therapeutic approaches. Here we identify melanoma addiction to the mitochondrial protein Glutaryl-CoA dehydrogenase (GCDH), a component in lysine metabolism which controls protein glutarylation. GCDH knockdown promoted apoptotic Unfolded Protein Response signaling and cell death
Sachin Verma, David Crawford, Ali Khateb, Yongmei Feng, Eduard Sergienko, Gaurav Pathria, Chen-Ting Ma, Steven H Olson, David Scott, Rabi Murad, Eytan Ruppin, Michael Jackson, Ze’ev A Ronai   +12 more
openaire   +1 more source

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins. [PDF]

PLoS ONE, 2014
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the
Jessica Schmiesing, Hartmut Schlüter, Kurt Ullrich, Thomas Braulke, Chris Mühlhausen   +4 more
doaj   +1 more source

Deglutarylation of GCDH by SIRT5 controls lysine metabolism in mice [PDF]

, 2020
ABSTRACTA wide range of protein acyl modifications has been identified on enzymes across various metabolic processes; however, the impact of these modifications remains poorly understood. Protein glutarylation is a recently identified modification that can be non-enzymatically driven by glutaryl-CoA. In mammalian systems, this unique metabolite is only
Dhaval P. Bhatt, C. Allie Mills, Kristin A. Anderson, Bárbara J. Henriques, Tânia G. Lucas, Sara Francisco, Juan Liu, Olga R. Ilkayeva, Alexander E. Adams, Shreyas R. Kulkarni, Donald S. Backos, Paul A. Grimsrud, Cláudio M. Gomes, Matthew D. Hirschey   +13 more
openaire   +1 more source

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families [PDF]

Human Mutation, 2000
Glutaric acidemia type I is caused by mutations of the glutaryl-CoA dehydrogenase (GCDH) gene resulting in loss of GCDH enzyme activity. Patients present with progressive dystonia and lesions in basal ganglia. Dietary treatment, when instituted from the early neonatal period, markedly reduces dystonia and morbidity.
N L, Tang, J, Hui, L K, Law, Y Y, Lam, K Y, Chan, W L, Yeung, A Y, Chan, K L, Cheung, T F, Fok   +8 more
openaire   +2 more sources

Siblings with glutaric aciduria type 1 with atypical phenotype with novel pathogenic variant in GCDH gene

Journal of Pediatric Neurosciences, 2021
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant.
Gowda, Vykuntaraju Kammasandra, Nagarajan, Balamurugan, Srinivasan, Varunvenkat M., Bhat, Maya   +3 more
openaire   +3 more sources