Results 161 to 170 of about 2,273 (178)

Joint Public Review: Interplay of YEATS2 and GCDH regulates histone crotonylation and drives EMT in head and neck cancer

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NRF2 mediates melanoma addiction to GCDH by modulating apoptotic signalling

Nature Cell Biology, 2022
Tumour dependency on specific metabolic signals has been demonstrated and often guided numerous therapeutic approaches. We identify melanoma addiction to the mitochondrial protein glutaryl-CoA dehydrogenase (GCDH), which functions in lysine metabolism and controls protein glutarylation. GCDH knockdown induced cell death programmes in melanoma cells, an
Sachin Verma, David Crawford, Ali Khateb, Yongmei Feng, Eduard Sergienko, Gaurav Pathria, Chen-Ting Ma, Steven H. Olson, David Scott, Rabi Murad, Eytan Ruppin, Michael Jackson, Ze’ev A. Ronai   +12 more
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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Molecular Genetics and Metabolism, 2000
Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a rare type of mutation, which breaks the stop codon of the GCDH gene. As described in other populations, R402W was the most common mutation.
Busquets, C, Soriano, M, de Almeida, IT, Garavaglia, B, Rimoldi, M, Rivera, I, Uziel, G, Cabral, A, Coll, MJ, Ribes, A   +9 more
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Abstract 1802: Melanoma addiction to GCDH

Cancer Research
Abstract Rewiring of metabolic pathways often underlies the malignant state, including melanoma. In our previous studies we have demonstrated melanoma addiction to Gutaryl Co-dehydrogenase (GCDH), an enzyme in the lysine catabolism pathway. Our studies revealed that blocking GCDH activity in melanoma, but not colon, lung or breast cancer
Namratha Nadig, Sachin Verma, Ze'ev A. Ronai   +2 more
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[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C ...
Hanjun, Yin, Qiong, Xue, Suyue, Zhu
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Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice

Molecular Neurobiology, 2018
Glutaric acidemia type I (GA-I) is a neurometabolic disease caused by deficient activity of glutaryl-CoA dehydrogenase (GCDH) that results in accumulation of metabolites derived from lysine (Lys), hydroxylysine, and tryptophan catabolism. GA-I patients typically develop encephalopatic crises with striatal degeneration and progressive white matter ...
Silvia Olivera-Bravo, Bianca Seminotti, Eugenia Isasi, César A. Ribeiro, Guilhian Leipnitz, Michael Woontner, Stephen I. Goodman, Diogo Souza, Luis Barbeito, Moacir Wajner   +9 more
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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Metabolic Brain Disease, 2020
Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl CoA dehydrogenase (GCDH).
Marina V. Kurkina, Svetlana V. Mihaylova, Galina V. Baydakova, Elena V. Saifullina, Sergey A. Korostelev, Denis V. Pyankov, Ilya V. Kanivets, Maksim A. Yunin, Natalya L. Pechatnikova, Ekaterina Y. Zakharova   +9 more
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Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene

Metabolic Brain Disease, 2020
Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings.
Angela Sitta, Gilian Guerreiro, Daniella de Moura Coelho, Vitoria Volfart da Rocha, Bianca Gomes dos Reis, Carmen Sousa, Laura Vilarinho, Moacir Wajner, Carmen Regla Vargas   +8 more
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[Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
OBJECTIVE To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I (GA-I). METHODS Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing. RESULTS Four mutations of the GCDH gene were
Yiming, Lin, Mingya, Han, Zhenzhu, Zheng, Weihua, Lin, Ke, Yu, Qingliu, Fu   +5 more
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[Mutation analysis of GCDH gene in four patients with glutaric academia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2015
To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass ...
Qi, Liu, Yiping, Chen, Wei, Chen
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