Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework

Autor: Juan Javier López-Rivera, Luna Rodríguez-Salazar, Alejandro Soto-Ospina, Carlos Estrada-Serrato, David Serrano, Henry Mauricio Chaparro-Solano, Olga Londoño, Paula A. Rueda, Geraldine Ardila, Andrés Villegas-Lanau, Marcela Godoy-Corredor, Mauricio Cuartas, Jorge I. Vélez, Oscar M. Vidal, Mario A. Isaza-Ruget, Mauricio Arcos-Burgos

Publikováno v: Brain Sciences, Vol 12, Iss 7, p 871 (2022)

A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiabl

Externí odkaz: https://doaj.org/article/cf2108db75d04200bab42022ab155b2f

Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework.

Autor: López-Rivera, Juan Javier^1,2 (AUTHOR) carestrada@keralty.co, Rodríguez-Salazar, Luna³ (AUTHOR) lunrodriguez@colsanitas.com, Soto-Ospina, Alejandro⁴ (AUTHOR) johnny.soto@udea.edu.co, Estrada-Serrato, Carlos² (AUTHOR) davidserranomsc@gmail.com, Serrano, David² (AUTHOR) henry.chaparro@urosario.edu.co, Chaparro-Solano, Henry Mauricio² (AUTHOR) olgalondono0821@gmail.com, Londoño, Olga² (AUTHOR), Rueda, Paula A.³ (AUTHOR) paularuedag2000@gmail.com, Ardila, Geraldine³ (AUTHOR) geralap10@hotmail.com, Villegas-Lanau, Andrés^4,5 (AUTHOR) andres.villegas@udea.edu.co, Godoy-Corredor, Marcela⁶ (AUTHOR) magodoy@colsanitas.com, Cuartas, Mauricio⁷ (AUTHOR) jorgemauricio.cuartas@gmail.com, Vélez, Jorge I.⁸ (AUTHOR) jvelezv@uninorte.edu.co, Vidal, Oscar M.⁸ (AUTHOR) oorjuela@uninorte.edu.co, Isaza-Ruget, Mario A.¹ (AUTHOR), Arcos-Burgos, Mauricio⁹ (AUTHOR) jjlopez@colsanitas.com

Publikováno v: Brain Sciences (2076-3425). Jul2022, Vol. 12 Issue 7, pN.PAG-N.PAG. 17p.