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A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
Baquedano MS, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M, Turjanski A, Defelipe LA, Rivarola MA, Belgorosky A. Baquedano MS, et al. Among authors: turjanski a. J Clin Endocrinol Metab. 2015 Jan;100(1):E191-6. doi: 10.1210/jc.2014-2676. J Clin Endocrinol Metab. 2015. PMID: 25322271
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A. Milanesio B, et al. Among authors: turjanski a. Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23. Clin Biochem. 2021. PMID: 33631127
Aromatic clusters in protein-protein and protein-drug complexes.
Lanzarotti E, Defelipe LA, Marti MA, Turjanski AG. Lanzarotti E, et al. Among authors: turjanski ag. J Cheminform. 2020 May 8;12(1):30. doi: 10.1186/s13321-020-00437-4. J Cheminform. 2020. PMID: 33431014 Free PMC article.
New one-pot synthesis of anti-tuberculosis compounds inspired on isoniazid.
Ghiano DG, Recio-Balsells A, Bortolotti A, Defelipe LA, Turjanski A, Morbidoni HR, Labadie GR. Ghiano DG, et al. Among authors: turjanski a. Eur J Med Chem. 2020 Dec 15;208:112699. doi: 10.1016/j.ejmech.2020.112699. Epub 2020 Aug 22. Eur J Med Chem. 2020. PMID: 32927391
TuberQ: a Mycobacterium tuberculosis protein druggability database.
Radusky L, Defelipe LA, Lanzarotti E, Luque J, Barril X, Marti MA, Turjanski AG. Radusky L, et al. Among authors: turjanski ag. Database (Oxford). 2014 May 8;2014(0):bau035. doi: 10.1093/database/bau035. Print 2014. Database (Oxford). 2014. PMID: 24816183 Free PMC article.
97 results