Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we ini...

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Detalles Bibliográficos
Autores principales: Bruque, C.D., Delea, M., Fernández, C.S., Orza, J.V., Taboas, M., Buzzalino, N., Espeche, L.D., Solari, A., Luccerini, V., Alba, L., Nadra, A.D., Dain, L.
Formato: JOUR
Materias:
CYP21A2 protein, human
steroid 21 monooxygenase
chemistry
computer simulation
congenital adrenal hyperplasia
genetic variation
genetics
human
metabolism
molecular model
mutation
protein conformation
protein stability
single nucleotide polymorphism
structure activity relation
Adrenal Hyperplasia, Congenital
Computer Simulation
Genetic Variation
Humans
Models, Molecular
Mutation
Polymorphism, Single Nucleotide
Protein Conformation
Protein Stability
Steroid 21-Hydroxylase
Structure-Activity Relationship
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_20452322_v6_n_p_Bruque
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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