Results 1 to 10 of about 9,205 (218)

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency [PDF]

JIMD Reports, 2023
Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate ...
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky   +6 more
doaj   +7 more sources

Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children [PDF]

BMC Pediatrics
Background Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou, Fatma Charfi, Rim Charfi, Amel Ben Chehida, Hela Boudabbous, Imen Chabchoub, Elise Lebigot, Thouraya Kammoun, Ines Maaloul   +8 more
doaj   +5 more sources

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

PLoS ONE, 2015
Cannabinoid CB1 receptors peripherally modulate energy metabolism. Here, we investigated the role of CB1 receptors in the expression of glucose/pyruvate/tricarboxylic acid (TCA) metabolism in rat abdominal muscle.
Sergio Arrabal, Miguel Angel Lucena, Miren Josune Canduela, Almudena Ramos-Uriarte, Patricia Rivera, Antonia Serrano, Francisco Javier Pavón, Juan Decara, Antonio Vargas, Elena Baixeras, Mercedes Martín-Rufián, Javier Márquez, Pedro Fernández-Llébrez, Baukje De Roos, Pedro Grandes, Fernando Rodríguez de Fonseca, Juan Suárez   +16 more
doaj   +9 more sources

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia [PDF]

Molecular Genetics and Metabolism Reports, 2021
Background: Dihydrolipoamide dehydrogenase deficiency (DLDD) is a rare metabolic disorder inherited in an autosomal recessive manner. This heterogeneous disease has a variable clinical presentation, onset, and biochemical markers.
Anar Alfarsi, Majid Alfadhel, Seham Alameer, Amal Alhashem, Brahim Tabarki, Faroug Ababneh, Ahmed Al Fares, Fuad Al Mutairi   +7 more
doaj   +5 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 acute liver failure (ALF).
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   +3 more sources

Inhibiting sperm pyruvate dehydrogenase complex and its E3 subunit, dihydrolipoamide dehydrogenase affects fertilization in Syrian hamsters. [PDF]

PLoS ONE, 2014
BACKGROUND/AIMS: The importance of sperm capacitation for mammalian fertilization has been confirmed in the present study via sperm metabolism.
Archana B Siva, Subbarayalu Panneerdoss, Purnima Sailasree, Durgesh K Singh, Duvurri B Kameshwari, Sisinthy Shivaji   +5 more
doaj   +4 more sources

Identification of Dihydrolipoamide Dehydrogenase as Potential Target of Vemurafenib-Resistant Melanoma Cells [PDF]

Molecules, 2022
Background: Despite recent improvements in therapy, the five-year survival rate for patients with advanced melanoma is poor, mainly due to the development of drug resistance.
Claudio Tabolacci, Deborah Giordano, Stefania Rossi, Martina Cordella, Daniela D’Arcangelo, Federica Moschella, Stefania D’Atri, Mauro Biffoni, Angelo Facchiano, Francesco Facchiano   +9 more
doaj   +2 more sources

Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer [PDF]

Redox Biology, 2020
Ferroptosis is a new form of regulated cell death driven by iron-dependent lipid peroxidation. Glutaminolysis and tricarboxylic acid cycle are involved in ferroptosis, but the underlying metabolic process remains unclear.
Daiha Shin, Jaewang Lee, Ji Hyeon You, Doyeon Kim, Jong-Lyel Roh   +4 more
doaj   +2 more sources

Rg3 regulates myocardial pyruvate metabolism via P300-mediated dihydrolipoamide dehydrogenase 2-hydroxyisobutyrylation in TAC-induced cardiac hypertrophy [PDF]

Cell Death and Disease, 2022
The failing heart is characterized by an increase in glucose uptake and glycolytic rates that is not accompanied by a concomitant increase in glucose oxidation.
Jingyu Ni, Hao Zhang, Xiaodan Wang, Zhihao Liu, Tong Nie, Lan Li, Jing Su, Yan Zhu, Chuanrui Ma, Yuting Huang, Jingyuan Mao, Xiumei Gao, Guanwei Fan   +12 more
doaj   +2 more sources

Dihydrolipoamide dehydrogenase of Vibrio splendidus is involved in adhesion to Apostichopus japonicus [PDF]

Virulence, 2019
Vibrio splendidus is one of the most opportunistic marine pathogens and infects many important marine animals, including the sea cucumber Apostichopus japonicus.
Fa Dai, Weiwei Zhang, Qiuting Zhuang, Yina Shao, Xuelin Zhao, Zhimeng Lv, Chenghua Li   +6 more
doaj   +2 more sources