Martinez Pizarro, Ainhoa ainhoa.martinez@uam.es

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

  • Martínez-Pizarro A, Desviat LR, Ugarte M, Pérez B, Richard E

Plos One - 1/3/2016

10.1371/journal.pone.0150357 View at source

  • ISSN 19326203

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

  • Martínez-Pizarro A, Dembic M, Pérez B, Andresen BS, Desviat LR

Plos Genetics (p. e1007360-e1007360) - 1/4/2018

10.1371/journal.pgen.1007360

  • ISSN 15537390
  • iMarina

RNA solutions to treat inborn errors of metabolism

  • Martinez-Pizarro A
  • Desviat LR

Molecular Genetics And Metabolism (p. 289-295) - 1/8/2022

10.1016/j.ymgme.2022.07.006 View at source

  • ISSN 10967192

This researcher has no books.

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Mecanismos responsables del fenotipo patológico en enfermedades neurometabólicas raras y aproximaciones terapéuticas personalizadas

  • Richard Rodriguez, Eva Maria

Period: 01-06-2020 - 31-05-2023

Type of funding: National

Amount of funding: 145200,00 Euros.

  • iMarina

Identificación y caracterización de mutaciones de splicing en pacientes con hiperfenilalaninemia; aproximaciones terapéuticas específicas de RNA

  • Ruiz Desviat, Lourdes (Director) Doctorando: Martínez Pizarro, Ainhoa

12/4/2019

  • iMarina

This researcher has no patents or software licenses.

Last data update: 9/15/22 8:08 PM