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Page 1
Urea cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Matsumoto S, et al. J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110235 Review.
This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondrial matrix, whereas the others (argininosuccinate synthetase, argininosuccinate lyase and arginase 1) are present in the cytoplasm. In addit …
This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondr …
Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.
Gougeard N, Sancho-Vaello E, Fernández-Murga ML, Martínez-Sinisterra B, Loukili-Hassani B, Häberle J, Marco-Marín C, Rubio V. Gougeard N, et al. J Inherit Metab Dis. 2024 Nov;47(6):1194-1212. doi: 10.1002/jimd.12747. Epub 2024 May 13. J Inherit Metab Dis. 2024. PMID: 38740568 Free PMC article.
N-acetylglutamate synthase (NAGS) makes acetylglutamate, the essential activator of the first, regulatory enzyme of the urea cycle, carbamoyl phosphate synthetase 1 (CPS1). ...We could not do the same with human NAGS (HuNAGS) because of enzyme i …
N-acetylglutamate synthase (NAGS) makes acetylglutamate, the essential activator of the first, regulatory enzyme …
Cellular landscape of adrenocortical carcinoma at single-nuclei resolution.
Tourigny DS, Altieri B, Secener KA, Sbiera S, Schauer MP, Arampatzi P, Herterich S, Sauer S, Fassnacht M, Ronchi CL. Tourigny DS, et al. Mol Cell Endocrinol. 2024 Sep 1;590:112272. doi: 10.1016/j.mce.2024.112272. Epub 2024 May 15. Mol Cell Endocrinol. 2024. PMID: 38759836 Free article.
To gain novel insights into the cellular landscape of ACC, we generated single-nuclei RNA sequencing (snRNA-seq) data sets from twelve ACC tumour samples and analysed these alongside snRNA-seq data sets from normal adrenal glands (NAGs). We find the ACC tumour microenviron …
To gain novel insights into the cellular landscape of ACC, we generated single-nuclei RNA sequencing (snRNA-seq) data sets from twelve ACC t …
Identification of fusions with potential clinical significance in melanoma.
Moran JMT, Le LP, Nardi V, Golas J, Farahani AA, Signorelli S, Onozato ML, Foreman RK, Duncan LM, Lawrence DP, Lennerz JK, Dias-Santagata D, Hoang MP. Moran JMT, et al. Mod Pathol. 2022 Dec;35(12):1837-1847. doi: 10.1038/s41379-022-01138-z. Epub 2022 Jul 23. Mod Pathol. 2022. PMID: 35871080 Free article.
We identified two novel rearrangements: NAGS::MAST2 and NOTCH1::GNB1; and two fusions that have been reported in other malignancies but not in melanoma: CANT1::ETV4 (prostate cancer) and CCDC6::RET (thyroid cancer). ...
We identified two novel rearrangements: NAGS::MAST2 and NOTCH1::GNB1; and two fusions that have been reported in other malignancies b …
Mutational landscape of inflammatory breast cancer.
Bertucci F, Lerebours F, Ceccarelli M, Guille A, Syed N, Finetti P, Adélaïde J, Van Laere S, Goncalves A, Viens P, Birnbaum D, Mamessier E, Callens C, Bedognetti D. Bertucci F, et al. J Transl Med. 2024 Apr 18;22(1):374. doi: 10.1186/s12967-024-05198-4. J Transl Med. 2024. PMID: 38637846 Free PMC article.
We compared the somatic mutational profiles, spectra and signatures, copy number alterations (CNAs), HRD and heterogeneity scores, and frequencies of actionable genomic alterations (AGAs) between IBCs and non-IBCs. The comparisons were adjusted for the molecular subtypes. …
We compared the somatic mutational profiles, spectra and signatures, copy number alterations (CNAs), HRD and heterogeneity scores, and frequ …
Lung Cancer: Targeted Therapy in 2025.
Bouchard N, Daaboul N. Bouchard N, et al. Curr Oncol. 2025 Mar 2;32(3):146. doi: 10.3390/curroncol32030146. Curr Oncol. 2025. PMID: 40136350 Free PMC article. Review.
In this article, we will review the current state of the art for non-small cell lung cancer (NSCLC) actionable genomic alterations (AGA). AGAs are mostly found in lung adenocarcinomas, a subtype of non-small cell lung cancers. ...
In this article, we will review the current state of the art for non-small cell lung cancer (NSCLC) actionable genomic alterations (AGA). …
Phase I Trial of Viral Vector-Based Personalized Vaccination Elicits Robust Neoantigen-Specific Antitumor T-Cell Responses.
D'Alise AM, Leoni G, Cotugno G, Siani L, Vitale R, Ruzza V, Garzia I, Antonucci L, Micarelli E, Venafra V, Gogov S, Capone A, Runswick S, Martin-Liberal J, Calvo E, Moreno V, Symeonides SN, Scarselli E, Bechter O. D'Alise AM, et al. Clin Cancer Res. 2024 Jun 3;30(11):2412-2423. doi: 10.1158/1078-0432.CCR-23-3940. Clin Cancer Res. 2024. PMID: 38506710 Free PMC article. Clinical Trial.
PURPOSE: Personalized vaccines targeting multiple neoantigens (nAgs) are a promising strategy for eliciting a diversified antitumor T-cell response to overcome tumor heterogeneity. NOUS-PEV is a vector-based personalized vaccine, expressing 60 nAgs and consists of p …
PURPOSE: Personalized vaccines targeting multiple neoantigens (nAgs) are a promising strategy for eliciting a diversified antitumor T …
Prevalence of pathogenic or likely pathogenic germline variants in cancer predisposition genes among selected patients with lung adenocarcinoma: The GERMLUNG study.
Arrieta O, Caballé-Pérez E, Hernández-Pedro N, Romero-Nuñez E, Lucio-Lozada J, Castillo-Ruiz C, Acevedo-Castillo K, María Álvarez-Gómez R, Molina-Garay C, Jiménez-Olivares M, Carrillo-Sánchez K, Cristina Mendoza-Caamal E, Cardona AF, Remon J, Alaez-Verson C. Arrieta O, et al. Lung Cancer. 2024 Aug;194:107864. doi: 10.1016/j.lungcan.2024.107864. Epub 2024 Jun 28. Lung Cancer. 2024. PMID: 38945003
METHODS: A cross-sectional cohort study was conducted to assess the PGVs rate in lung adenocarcinoma patients with a family history of LC, young-onset presentation, history of never/light smoking, or actionable genomic alterations (AGAs). Sequencing was performed using Sop …
METHODS: A cross-sectional cohort study was conducted to assess the PGVs rate in lung adenocarcinoma patients with a family history of LC, y …
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L. Häberle J, et al. Hum Mutat. 2021 Dec;42(12):1624-1636. doi: 10.1002/humu.24281. Epub 2021 Sep 24. Hum Mutat. 2021. PMID: 34510628 Free PMC article.
N-acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder caused either by decreased expression of the NAGS gene or defective NAGS enzyme resulting in decreased production of N-acetylglutamate (NAG), an allosteric activ …
N-acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder caused either by decreased expressi …
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L. Williams M, et al. Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0. Sci Rep. 2018. PMID: 30337552 Free PMC article.
N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAG …
N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that re …
33 results