Results 131 to 140 of about 3,572 (156)

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: Dihydrolipoamide dehydrogenase (E3) deficiency with a clinical phenotype and genotype (Gly194Cys homozygous), previously identified only in Ashkenazi Jewish patients, was diagnosed in two Palestinian Arab siblings and two unrelated Ashkenazi Jewish patients. While three of the four patients died in childhood without specific treatment,
Y S, Hong, S H, Korman, J, Lee, P, Ghoshal, Q, Wu, V, Barash, S, Kang, S, Oh, M, Kwon, A, Gutman, A, Rachmel, M S, Patel   +11 more
openaire   +2 more sources

BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

Molecular Genetics and Metabolism, 2023
Parith Wongkittichote, Dorothy K. Grange, Stephen Roper, Stephen Master, Rebecca Ganetzky   +4 more
openaire   +1 more source

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Human mutation, 2006
The alpha-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of alpha-ketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD).
Marie-Hélène, Odièvre, Dominique, Chretien, Arnold, Munnich, Brian H, Robinson, Renée, Dumoulin, Sahben, Masmoudi, Noman, Kadhom, Agnès, Rötig, Pierre, Rustin, Jean-Paul, Bonnefont   +9 more
openaire   +1 more source

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Nature Medicine, 2022
Anirban Das, Daniel Morgenstern, Ailish C Coblentz   +2 more
exaly  

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

Human Mutation, 2005
Marie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, Brian H. Robinson, Renée Dumoulin, Sahben Masmoudi, Noman Kadhom, Agnès Rötig, Pierre Rustin, Jean-Paul Bonnefont   +9 more
openaire   +1 more source

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature Medicine, 2021
Masato Ogishi, Rui Yang, Caner Aytekin
exaly  

Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic

Ca-A Cancer Journal for Clinicians, 2011
Timothy A Yap, Johann Sebastian de Bono
exaly  

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Nature, 2006
stefan Feske, Murali Prakriya, Sonal Srikanth   +2 more
exaly  

ARID1A deficiency promotes mutability and potentiates therapeutic antitumor immunity unleashed by immune checkpoint blockade

Nature Medicine, 2018
Jianfeng Shen, Zhenlin Ju, Wei Zhao
exaly  

Ccr2 deficiency impairs microglial accumulation and accelerates progression of Alzheimer-like disease

Nature Medicine, 2007
Joseph El Khoury, Changiz Geula, Andrew D Luster   +2 more
exaly