Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

by Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat
Published 2018-04-01

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

by Ainhoa Martínez-Pizarro, Lourdes R Desviat, Magdalena Ugarte, Belén Pérez, Eva Richard
Published 2016-01-01