Results 11 to 20 of about 6,761,337 (191)

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

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   +4 more sources

Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. [PDF]

JIMD Rep, 2015
Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Gupta N, Singh PK, Kumar M, Shastri S, Gulati S, Kumar A, Agarwala A, Kapoor S, Nair M, Sapra S, Dubey S, Singh A, Kaur P, Kabra M.   +13 more
europepmc   +5 more sources

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   +3 more sources

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model [PDF]

Molecular Therapy: Methods & Clinical Development
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage ...
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat   +9 more
doaj   +2 more sources

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum [PDF]

Global Medical Genetics
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy and chronic renal failure.
Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil   +15 more
doaj   +2 more sources

A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

European Journal of Medical Case Reports, 2017
Background: Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by mutations in the glutaryl CoA dehydrogenase gene (GCDH). If left untreated, it leads to accumulation of neurotoxic metabolites leading to poor neurological outcomes characterized by encephalopathic crises, subdural effusions and extrapyramidal ...
Ahlam Abed Alrhman Ahmed Hamed, Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker   +4 more
openaire   +2 more sources

Rescue of Glutaric Aciduria Type I in Mice by Liver-Directed Therapies [PDF]

Science Translational Medicine, 2023
Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism.
Asokan, Aravind, Barzi, Mercedes, Beasley, James, Bissig, Karl-Dimiter, Bissig-Choisat, Beatrice, Chen, Tong, Diehl, Anna Mae, El-Gharbawy, Areeg, Everitt, Jeffrey I, Gonzalez, Trevor J, Hemmingsen, Madeline, Johnson, Collin G, Lagor, William R, Ma, Yunhan, Maeso-Diaz, Raquel, Peck, Cheryl K, Rodriguiz, Ramona M, Rosales, Alan, Stiles, Ashlee R, Wetsel, William C, Wood, Timothy C, Young, Sarah P   +21 more
core   +3 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

Assignment of Human Glutaryl-CoA Dehydrogenase Gene (GCDH) to the Short Arm of Chromosome 19 (19p13.2) by in Situ Hybridization and Somatic Cell Hybrid Analysis

Genomics, 1994
Here, the authors report the mapping of GCDH to chromosome 19 by both in situ hybridization and human-hamster somatic cell hybrid analysis. In situ hybridization of a 688-bp genomic fragment of GCDH to BrdU-synchronized peripheral blood lymphocytes was performed as described in Duncan et al. The positions of silver grains directly over or touching well-
C R, Greenberg, A M, Duncan, C A, Gregory, R, Singal, S I, Goodman   +4 more
openaire   +3 more sources

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision [PDF]

Journal of Inherited Metabolic Disease, 2022
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and ...
Ballhausen, Diana, Baumgartner, Matthias R, Beblo, Skadi, Boy, Nikolas, Burgard, Peter, Chapman, Kimberly A, Dobbelaere, Dries, et al, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Heringer‐Seifert, Jana, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Maier, Esther M, Märtner, E M Charlotte, Mühlhausen, Chris, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique   +30 more
core   +2 more sources