Structural basis of Focal Adhesion Kinase activationon lipid membranes
Nueva publicación dentro del grupo de Óscar Llorca (OLL-CNIO).
Continue ReadingConserved cysteines in titin sustain the mechanical function of cardiomyocytes
Nueva publicación del grupo de Jorge Alegre Cebollada y colaboradores (Grupo MOLMECH_CNIC).
Continue ReadingCelebración doble en Tec4Bio
Dos proyectos de investigación presentados por grupos de Tec4Bio han sido seleccionados por la Fundación La Caixa en su convocatoria de Investigación en Salud 2020.
Enhorabuena a MecanoCaveoLab y a OLL-CNIO.
Caveolin1 and YAP drive mechanically induced mesothelial to mesenchymal transition and fibrosis
Nueva publicación del grupo de Miguel Ángel del Pozo (Grupo MecanoCaveoLab).
Continue ReadingBulk and single-molecule analysis of a bacterial DNA2-like helicase–nuclease reveals a single-stranded DNA looping motor
Nueva publicación del grupo de Fernando Moreno Herrero donde emplean las pinzas magnéticas para estudiar el mecanismo mediante el que la helicasa-nucleasa Bad desenrolla la doble hélice de ADN.
Continue ReadingSingle-cell biophysical study reveals deformability and internal ordering relationship in T cells
Nueva publicación del grupo de Gustavo Plaza.
Continue ReadingTumor-stroma biomechanical crosstalk: a perspective on the role of caveolin-1 in tumor progression
Nueva publicación del grupo de Miguel Ángel del Pozo.
Continue ReadingRPAP3 C-Terminal Domain: A Conserved Domain for the Assembly of R2TP Co-Chaperone Complexes
Pese a la situación actual, la producción científica no se ha visto alterada. Nos alegra informaros de una nueva publicación del grupo de Oscar Llorca.
Continue ReadingStructure and activity of human surfactant protein SP-D from different natural sources
Hoy se publica en American Journal of Physiology un estudio colaborativo del grupo SM-Biophys dirigido por Fernando Moreno Herrero y del departamento de bioquímica de la UCM a cargo del Dr. Jesús Pérez Gil. En él se recogen Imágenes de AFM de moléculas de la SP-D del surfactante pulmonar humano, una proteína que nos defiende de bacterias y virus, obtenidas de líquido amniótico.
Continue ReadingProtein haploinsufficiency drivers identify MYBPC3 mutations that cause hypertrophic cardiomyopathy
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Abstract: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Mutations in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are a leading cause of HCM. However, it remains challenging to define whether specific gene variants found in patients are pathogenic or not, limiting the reach of cardiovascular genetics in the management of HCM. Here, we have examined cMyBP-C haploinsufficiency drivers in 68 clinically annotated non-truncating variants of MYBPC3. We find that 45% of the pathogenic variants show alterations in RNA splicing or protein stability, which can be linked to pathogenicity with 100% and 94% specificity, respectively. Relevant for variant annotation, we uncover that 9% of non-truncating variants of MYBPC3 currently classified as of uncertain significance induce one of these molecular phenotypes. We propose that alteration of RNA splicing or protein stability caused by MYBPC3 variants provide strong evidence of their pathogenicity, leading to improved clinical management of HCM patients and their families.
Link a la publicación.