Results 11 to 20 of about 3,572 (156)

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency. [PDF]

Nutrients, 2021
Background: Dihydrolipoamide dehydrogenase (DLD lipoamide dehydrogenase, the E3 subunit of the pyruvate dehydrogenase complex (PDHC)) is the third catalytic enzyme of the PDHC, which converts pyruvate to acetyl-CoA catalyzed with the introduction of acetyl-CoA to the tricyclic acid (TCA) cycle.
Staretz-Chacham O, Pode-Shakked B, Kristal E, Abraham SY, Porper K, Wormser O, Shelef I, Anikster Y.   +7 more
europepmc   +4 more sources

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients. [PDF]

J Inherit Metab Dis
ABSTRACT Dihydrolipoamide dehydrogenase deficiency (MIM 246900/DLDD) is an autosomal recessive mitochondrial disease with three clinical subgroups. The hepatic form leads to recurrent metabolic decompensations often accompanied by elevated levels of liver transaminases (ELT) in blood, sometimes progressing to ...
Hammann N, Staufner C, Schlieben LD, Dezsőfi-Gottl A, Feichtinger RG, Häberle J, Junge N, Konstantopoulou V, Kopajtich R, McLin V, Rymen D, Slavetinsky C, Sturm E, Mayr JA, Wagner M, Kölker S, Prokisch H, Hoffmann GF, Lenz D.   +18 more
europepmc   +5 more sources

Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants. [PDF]

Hum Mol Genet, 2019
AbstractHuman dihydrolipoamide dehydrogenase (hLADH, hE3) deficiency (OMIM# 246900) is an often prematurely lethal genetic disease usually caused by inactive or partially inactive hE3 variants. Here we report the crystal structure of wild-type hE3 at an unprecedented high resolution of 1.75 Å and the structures of six disease-causing hE3 variants at ...
Szabo E, Wilk P, Nagy B, Zambo Z, Bui D, Weichsel A, Arjunan P, Torocsik B, Hubert A, Furey W, Montfort WR, Jordan F, Weiss MS, Adam-Vizi V, Ambrus A.   +14 more
europepmc   +4 more sources

Disruption of Mitochondrial Dynamics and Integrity Drives Divergent Metabolic Flexibility and Resilience in Podocytes. [PDF]

FASEB J
We investigated two models of mitochondrial dysfunction in podocytes, using two cell culture models: podocytes isolated from mice with Oma1 deletion (Oma1del) and mouse podocytes modified with an inducible knockdown of PHB2 (Phb2kd). OMA1 deficiency induced a glycolytic shift, enhanced glutamine anaplerosis, and sustained energy homeostasis after ...
Özel C, Reitmeier KM, Kieckhöfer E, Abualia K, Nguyen-Minh D, Matin M, Hagmann H, Coward RJM, Brähler S, Antczak P, Schermer B, Benzing T, Giavalisco P, Brinkkoetter PT.   +13 more
europepmc   +2 more sources

The NADPH oxidase NOX4 regulates redox and metabolic homeostasis preventing HCC progression

Hepatology, EarlyView., 2022
Loss of NOX4 in HCC tumor cells induces metabolic reprogramming in a Nrf2/MYC‐dependent manner to promote HCC progression. Abstract Background and Aims The NADPH oxidase NOX4 plays a tumor‐suppressor function in HCC. Silencing NOX4 confers higher proliferative and migratory capacity to HCC cells and increases their in vivo tumorigenic potential in ...
Irene Peñuelas‐Haro, Rut Espinosa‐Sotelo, Eva Crosas‐Molist, Macarena Herranz‐Itúrbide, Daniel Caballero‐Díaz, Ania Alay, Xavier Solé, Emilio Ramos, Teresa Serrano, María L. Martínez‐Chantar, Ulla G. Knaus, José M. Cuezva, Antonio Zorzano, Esther Bertran, Isabel Fabregat   +14 more
wiley   +1 more source

Regulation of pyruvate dehydrogenase complex: Dancing to different drums in cancer. [PDF]

Int J Cancer
Abstract Mechanisms governing the regulation of pyruvate dehydrogenase complex (PDC) are markedly modified in cancer cells compared to normal cells. PDC activity in normal cells is controlled by the reversible phosphorylation of three serine residues by dedicated kinases and phosphatases.
Patel MS, Rideout TC.
europepmc   +2 more sources

First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency

Journal of Rare Diseases and Orphan Drugs, 2023
Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4).
Marwa El Masri, Carla Chikhani, Hicham Mansour, Rami Ghabril, Dany Hamod, Andre Mgarbane, Maroun Sokhn   +6 more
openaire   +1 more source

Pharmacological Blockade of Cannabinoid CB1 Receptors in Diet-Induced Obesity Regulates Mitochondrial Dihydrolipoamide Dehydrogenase in Muscle [PDF]

, 2015
Funding: This work was supported by CIBERobn (CB06/03/1008), Ministerio de Economía y Competitividad (MINECO) (PG: BFU2012-33334), Instituto de Salud Carlos III (ISCIII), MINECO, co-funded by UE-ERDF program (JS: CP12/03109), Red de Trastornos Adictivos (
Arrabal, Sergio, Baixeras, Elena, Canduela, Miren Josune, De Roos, Baukje, Decara, Juan, Fernández-Llébrez, Pedro, Grandes, Pedro, Lucena, Miguel Angel, Martín-Rufián, Mercedes, Márquez, Javier, Pavón, Francisco Javier, Ramos-Uriarte, Almudena, Rivera, Patricia, Rodríguez de Fonseca, Fernando, Serrano, Antonia, Suárez, Juan, Vargas, Antonio   +16 more
core   +10 more sources

HEPNet: A Knowledge Base Model of Human Energy Pool Network for Predicting the Energy Availability Status of an Individual. [PDF]

PLoS ONE, 2015
HEPNet is an electronic representation of metabolic reactions occurring within human cellular organization focusing on inflow and outflow of the energy currency ATP, GTP and other energy associated moieties. The backbone of HEPNet consists of primary bio-
Abhishek Sengupta, Monendra Grover, Amlan Chakraborty, Sarika Saxena   +3 more
doaj   +1 more source

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. [PDF]

Proceedings of the National Academy of Sciences, 1993
The molecular basis of dihydrolipoamide dehydrogenase (E3; dihydrolipoamide:NAD+ oxidoreductase, EC 1.8.1.4) deficiency in an E3-deficient patient was studied. Fibroblasts cultured from the patient contained only approximately 6% of the E3 activity of cells from a normal subject.
T C, Liu, H, Kim, C, Arizmendi, A, Kitano, M S, Patel   +4 more
openaire   +2 more sources