Results 11 to 20 of about 5,746 (195)

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1. [PDF]

Int J Mol Sci, 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 conformation can affect the biochemical phenotype.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW.   +8 more
europepmc   +4 more sources

Hepatic CBP/p300 Orchestrate Amino Acid‐Driven Gluconeogenesis through Histone Crotonylation

Advanced Science
The role of amino acid metabolism dysregulation in the development of type 2 diabetes remains elusive. Here, significant associations of human CREBBP/EP300 gene polymorphisms with circulating amino acid and glucose levels are reported. Through integrated
Chunxiang Sheng, Tianjiao Li, Hong Lin, Xiaoqin Ma, Feiye Zhou, Mingzhu Li, Yiru Wang, Shushu Wang, Jialin Tan, Junmin Chen, Yulin Yang, Jianmin Liu, Yufang Bi, Jieli Lu, Xiao Wang, Libin Zhou   +15 more
doaj   +2 more sources

A low-excretor biochemical phenotype of glutaric aciduria type I: Identification of novel mutations in the glutaryl coa dehydrogenase gene and review of literature from India

Annals of Indian Academy of Neurology, 2020
Muntaj Shaik, Mahesh Kamate, T P Kruthika-Vinod, Anakala Basappa Vedamurthy   +3 more
doaj   +2 more sources

Anaerobic Limonene Metabolism in a Methanogenic Enrichment Involves a Glycine Radical Enzyme. [PDF]

Environ Microbiol
A methanogenic enrichment culture on the natural monoterpene limonene is characterised by a novel glycine radical enzyme for anaerobic hydrocarbon activation, the presence of a microbial loop for necromass utilisation and the presence of a predator of Bacteria and Archaea. ABSTRACT Limonene is a natural monoterpene omnipresent in human environments. It
Lonsing A, Martens GA, Resteu A, Kizina J, Wilkie I, Bahr A, Harder J.   +6 more
europepmc   +2 more sources

The link of carbon catabolite repression elements, small RNAs CrcY and CrcZ and polyhydroxyalkanoate metabolism in Pseudomonas putida KT2440 [PDF]

Biotechnology for Biofuels and Bioproducts
Background Polyhydroxyalkanoates (PHAs), biodegradable polymers, can be synthesised and degraded by a number of bacteria. With a range of monomer composition and molecular weight, these polymers can be used for packaging to medical applications. However,
Yixin Che, Dominic Harris-Jukes, Elizabeth Sitko, Moya Brady, William Casey, Michael P. Shaver, Kevin O’Connor, Tanja Narancic   +7 more
doaj   +2 more sources

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra   +3 more
doaj   +1 more source

Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening. [PDF]

Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011
Glutaric acidemia type 1 is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive movement disorders in humans. The defects in glutaryl-CoA dehydrogenase (GCDH) associated with this disease are thought to increase holoenzyme instability and reduce cofactor binding.
Begley DW, Davies DR, Hartley RC, Hewitt SN, Rychel AL, Myler PJ, Van Voorhis WC, Staker BL, Stewart LJ.   +8 more
europepmc   +4 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

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +2 more sources

A rare case of type i glutaric aciduria in an early child

Медицинский вестник Юга России, 2020
Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko   +8 more
doaj   +1 more source