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The following term was not found in PubMed: ACAD5
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Lysine catabolism reprograms tumour immunity through histone crotonylation.
Yuan H, Wu X, Wu Q, Chatoff A, Megill E, Gao J, Huang T, Duan T, Yang K, Jin C, Yuan F, Wang S, Zhao L, Zinn PO, Abdullah KG, Zhao Y, Snyder NW, Rich JN. Yuan H, et al. Nature. 2023 May;617(7962):818-826. doi: 10.1038/s41586-023-06061-0. Epub 2023 May 17. Nature. 2023. PMID: 37198486
Here we show that glioblastoma stem cells (GSCs) reprogram lysine catabolism through the upregulation of lysine transporter SLC7A2 and crotonyl-coenzyme A (crotonyl-CoA)-producing enzyme glutaryl-CoA dehydrogenase (GCDH) with downregulation of the crot …
Here we show that glioblastoma stem cells (GSCs) reprogram lysine catabolism through the upregulation of lysine transporter SLC7A2 and croto …
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME, Dimitrov B, Schröter J, Ribes A, de la Fuente RP, Zamora B, van Karnebeek CDM, Kölker S, Garanto A. Schuurmans IME, et al. J Inherit Metab Dis. 2023 May;46(3):371-390. doi: 10.1002/jimd.12608. Epub 2023 Apr 16. J Inherit Metab Dis. 2023. PMID: 37020324
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients, together with …
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl …
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW. Barroso M, et al. Int J Mol Sci. 2023 Aug 24;24(17):13158. doi: 10.3390/ijms241713158. Int J Mol Sci. 2023. PMID: 37685964 Free PMC article.
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed p …
Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) defic …
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A, Evers C, Oeser S, Rinke I, Jauch A, Hinderhofer K. Tibelius A, et al. Genes (Basel). 2023 Dec 14;14(12):2218. doi: 10.3390/genes14122218. Genes (Basel). 2023. PMID: 38137040 Free PMC article.
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein …
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic …
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z, Gong A, Liu S, Liang H. Guo Z, et al. Mol Genet Genomics. 2023 May;298(3):603-614. doi: 10.1007/s00438-023-02002-8. Epub 2023 Mar 11. Mol Genet Genomics. 2023. PMID: 36906724 Review.
The genetic analysis revealed two compound heterozygous variants in the GCDH gene expected to lead to GA-I in the two probands (P1 and P2), with P1 carrying two known variants (c.892G > A/p. ...In the literature review, the most common alleles in low excretors (i.e., in …
The genetic analysis revealed two compound heterozygous variants in the GCDH gene expected to lead to GA-I in the two probands (P1 an …
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M, Kameli R, Hosseinpour S, Razmara E, Zamani Z, Rezaei Z, Mashayekhi R, Pak N, Barzegar M, Azizimalamiri R, Kashani MR, Khosroshahi N, Rasulinezhad M, Heidari M, Amanat M, Abdi A, Mohammadi B, Mohammadi M, Zamani GR, Badv RS, Omrani A, Nikbakht S, Bereshneh AH, Movahedinia M, Moghaddam HF, Ardakani HS, Akbari MG, Tousi MB, Shahi MV, Hosseini F, Amouzadeh MH, Hosseini SA, Nikkhah A, Khajeh A, Alizadeh H, Yarali B, Rohani M, Karimi P, Elahi HML, Hosseiny SMM, Sadeghzadeh MS, Mohebbi H, Moghadam MH, Aryan H, Vahidnezhad H, Soveizi M, Rabbani B, Rabbani A, Mahdieh N, Garshasbi M, Tavasoli AR. Ashrafi M, et al. Neurogenetics. 2023 Oct;24(4):279-289. doi: 10.1007/s10048-023-00730-y. Epub 2023 Aug 19. Neurogenetics. 2023. PMID: 37597066
Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2-HGA-3.6%), mitochondrial leukodystrophies (12.6%), ion and water homeostasis disorders (7.3%; MLC-4.5%), peroxisomal disorders (6.5%; X-ALD …
Lysosomal disorders (27.3%; GM2-gangliosidosis-9.8%, MLD-6.1%, KD-4.5%), amino and organic acid disorders (17.15%; Canavan disease-4.5%, L-2 …
Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.
Ribeiro JV, Gomes CM, Henriques BJ. Ribeiro JV, et al. Int J Mol Sci. 2020 Sep 25;21(19):7063. doi: 10.3390/ijms21197063. Int J Mol Sci. 2020. PMID: 32992790 Free PMC article.
This is the case for glutaric aciduria type I (GA-I), a rare neurometabolic disorder associated with mutations in the GCDH gene, which encodes for glutaryl-coenzyme A (CoA) dehydrogenase (GCDH). ...Through a systematic analysis, we establish that recombinant …
This is the case for glutaric aciduria type I (GA-I), a rare neurometabolic disorder associated with mutations in the GCDH gene, whic …
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.
Gürbüz BB, Yılmaz DY, Coşkun T, Tokatlı A, Dursun A, Sivri HS. Gürbüz BB, et al. Eur J Med Genet. 2020 Nov;63(11):104032. doi: 10.1016/j.ejmg.2020.104032. Epub 2020 Aug 7. Eur J Med Genet. 2020. PMID: 32777384
INTRODUCTION: Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of glutaryl-co-enzyme A dehydrogenase (GCDH) enzyme encoded by GCDH gene. In this study, we aim to retrospectively invest …
INTRODUCTION: Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of …
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.
Ribeiro JV, Lucas TG, Bross P, Gomes CM, Henriques BJ. Ribeiro JV, et al. Biochim Biophys Acta Proteins Proteom. 2020 Jan;1868(1):140269. doi: 10.1016/j.bbapap.2019.140269. Epub 2019 Sep 3. Biochim Biophys Acta Proteins Proteom. 2020. PMID: 31491587
Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes for glutaryl-CoA dehydrogenase (GCDH), a flavoprotein involved in the metabolism of tryptophan, lysine and hydrox …
Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes f …
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sitta A, Guerreiro G, de Moura Coelho D, da Rocha VV, Dos Reis BG, Sousa C, Vilarinho L, Wajner M, Vargas CR. Sitta A, et al. Metab Brain Dis. 2021 Feb;36(2):205-212. doi: 10.1007/s11011-020-00632-0. Epub 2020 Oct 16. Metab Brain Dis. 2021. PMID: 33064266
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 clinica …
Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenas …
36 results