A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

by Ana T. Marcos, Diego Amorós, Beatriz Muñoz-Cabello, Francisco Galán, Eloy Rivas Infante, Luis Alcaraz‐Mas, José M. Navarro‐Pando
Published 2020-08-01

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

by Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo
Published 2020-05-01

Inhibition of the NLRP3 inflammasome improves lifespan in animal murine model of Hutchinson–Gilford Progeria

by Alvaro González‐Dominguez, Raúl Montañez, Beatriz Castejón‐Vega, Jéssica Nuñez‐Vasco, Débora Lendines‐Cordero, Chun Wang, Gabriel Mbalaviele, José M Navarro‐Pando, Elísabet Alcocer‐Gómez, Mario D Cordero
Published 2021-10-01