Results 21 to 30 of about 3,572 (156)

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency [PDF]

Human Molecular Genetics, 1996
An infant girl with elevated blood lactate, pyruvate, and plasma branched-chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3; dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4) deficiency. Activities of the pyruvate dehydrogenase complex and E3 from patient were 26 and 2% of controls in blood lymphocytes, and 11 and 14% in cultured
Y S, Hong, D S, Kerr, W J, Craigen, J, Tan, Y, Pan, M, Lusk, M S, Patel   +6 more
openaire   +2 more sources

Transcriptomic Responses of the Marine Diatom <i>Phaeodactylum tricornutum</i> to High Carbon and Low Nitrogen Stress. [PDF]

Ecol Evol
To elucidate the integrated transcriptional mechanisms underlying diatom acclimation to coupled carbon–nitrogen (CN) imbalance, we employed RNA sequencing (RNA‐Seq) to characterize the global transcriptional response of the model diatom Phaeodactylum tricornutum to high CO2 (~2000 μatm) and low nitrogen (10% of nitrogen concentration in f/2 medium ...
Zhang Y, Duan J, Zheng Y, Chen X, Li C, Xie Z, Huang A.   +6 more
europepmc   +2 more sources

Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction

Disease Models & Mechanisms, 2020
Maple syrup urine disease (MSUD) is an inherited error in the metabolism of branched-chain amino acids (BCAAs) caused by a severe deficiency of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which ultimately leads to neurological disorders.
Hui-Ying Tsai, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan, Chun-Hong Chen   +5 more
doaj   +1 more source

Formation of reactive oxygen species by human and bacterial pyruvate and 2- oxoglutarate dehydrogenase multienzyme complexes reconstituted from recombinant components [PDF]

, 2015
Individual recombinant components of pyruvate and 2-oxoglutarate dehydrogenase multienzyme complexes (PDHc, OGDHc) of human and Escherichia coli (E. coli) origin were expressed and purified from E. coli with optimized protocols.
Adam-Vizi, Adam-Vizi, Adam-Vizi, Ambrus, Ambrus, Ambrus, Ambrus, Ambrus, Andreyev, Attila Ambrus, Azzi, Babady, Balakrishnan, Bando, Beata Torocsik, Berg, Blass, Brautigam, Brautigam, Brown, Bunik, Bunik, Cameron, Chinopoulos, Chinopoulos, Constantinescu, Contreras, Cruts, Diaz-Munoz, Droge, Dumont, Erfle, Fisher-Wellman, Frank, Frank Jordan, Gazaryan, Gibson, Gibson, Gibson, Gibson, Graf, Guest, Gupta, Hamada, Hansford, Harris, Hirashima, Hong, Huennekens, Kiselevsky, Klyachko, Koike, Koike, Korotchkina, Korotchkina, Kumar, Kussmaul, Lai, Lakaschus, Laszlo Tretter, Martinvalet, Massey, Massey, Massey, Mattias Nilsson, Mayo, McCord, McLennan, Mottley, Nakano, Natalia S. Nemeria, Nemeria, Nemeria, Nemeria, Nulton-Persson, Otulakowski, Patel, Perham, Pettit, Popov, Poulsen, Quinlan, Quinonez, Reed, Reed, Reed, Reed, Rosen, Saumweber, Seifert, Shaag, Shany, Sheu, Shi, Shim, Siebels, Song, Starkov, Starkov, Starkov, Tahara, Thekkumkara, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tretter, Tyagi, Vaubel, Vera Adam-Vizi, Vereczki, Wei, Willems, Yan, Yang, Yi, Zundorf   +123 more
core   +1 more source

Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism [PDF]

Neurochemistry International, 2018
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of genetic alterations with a special emphasis on the moonlighting biochemical phenomena related to the affected (dihydro)lipoamide dehydrogenase (LADH, E3, gene: dld), in particular the generation of reactive oxygen species (ROS).
Attila Ambrus, Vera Adam-Vizi
openaire   +3 more sources

Reciprocal regulation of protein synthesis and carbon metabolism for thylakoid membrane biogenesis [PDF]

, 2013
Metabolic control of gene expression coordinates the levels of specific gene products to meet cellular demand for their activities. This control can be exerted by metabolites acting as regulatory signals and/or a class of metabolic enzymes with dual ...
Bohne, Alexandra-Viola, Lidschreiber, Michael, Nickelsen, Jörg, Piotrowski, Markus, Schottkowski, Marco, Schwarz, Christian, Zerges, William   +6 more
core   +3 more sources

Pyruvate Dehydrogenase E3 Deficiency - Heterozygous Mutation in Dihydrolipoamide Dehydrogenase (DLD) Gene Associated with Symptomatic Hypoglycaemia. A Case Report

New Emirates Medical Journal, 2023
Background: Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder that presents with lactic acidemia and neurological manifestations. It is a very rare genetic disorder, a potentially life-threatening one with the usual presentation of hypotonia, lethargy, and developmental delay.
Prashanth S. Veeraiah, Vikram S. Kumar, S R. Dhananjaya, Sajna Khalid, Shivaraj Gowda   +4 more
openaire   +1 more source

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del)

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1997
A male child with metabolic acidosis was diagnosed as having dihydrolipoamide dehydrogenase (E3) deficiency. E3 activity of the proband's cultured fibroblasts and blood lymphocytes was 3-9% of normal, while in the parent's lymphocytes it was about 60% of normal.
Hong, Young Soo, Kerr, Douglas S, Liu, Te-Chung, Lusk, Marilyn, Powell, Berkley R, Patel, Mulchand S   +5 more
openaire   +2 more sources

Hepatitis B Virus Core Promoter Double Mutations (A1762T, G1764A) Are Associated with Lower Levels of Serum Dihydrolipoyl Dehydrogenase [PDF]

, 2016
Published by S. Karger AG, BaselObjectives: The aim of this study was to identify serum proteins with differential concentrations between hepatocellular carcinoma (HCC) patients and HBsAg asymptomatic carriers among individuals infected with hepatitis B ...
Chen, QY, Fang, ZL, Harrison, TJ, Hu, LP, Jiang, ZH, Li, GJ, Li, H, Li, KW, Tan, C, Wang, XY, Yang, QL   +10 more
core   +2 more sources

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]

, 2017
open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.

core   +1 more source