Article
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
European journal of medical genetics - 1 Aug 2022
Hidalgo Mayoral Irene, Martínez-Salio Antonio, Llamas-Velasco Sara, Gómez-Majón Irene, Arteche-López Ana, Quesada-Espinosa Juan Francisco, Palma Milla Carmen, Lezana Rosales Jose Miguel, Pérez de la Fuente Rubén, Juárez Rufián Alexandra, Sierra Tomillo Olalla, Sánchez Calvín Maria Teresa, Gómez Rodríguez Maria José, Ramos Gómez Patricia, Villarejo-Galende Alberto, Díaz-Guzmán Jaime, Ortega-Casarrubios Maria Ángeles, Calleja-Castaño Patricia, Moreno-García Marta
Abstract excerpt
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by biallellic variants in HTRA1. Recently, it has been reported that several heterozygous mutations in HTRA1 are responsible for a milder late-onset cerebral small vessel disease (CSVD) with an autosomal dominant pattern of inheritance. The majority of them are...
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