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Author profile at the institutional portal

Martinez Pizarro, Ainhoa ainhoa.martinez@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

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

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

  • Leandro R Soria
  • Georgios Makris
  • Alfonso M D´Alessio
  • Angela De Angelis
  • Iolanda Boffa
  • Veronica M Pravata
  • Veronique Rufenacht
  • Sergio Attanasio
  • Edoardo Nusco
  • Paola Arena
  • Andrew T Ferenbach
  • Debora Paris
  • Paola Cuomo
  • Andrea Motta
  • Matthew Nitzahn
  • Gerald S Lipshutz
  • Ainhoa Martínez-Pizarro
  • Eva Richard
  • Lourdes R Desviat
  • Johannes Haberle
  • Daan MF van Aalten
  • Nicola Brunetti-Pierri
... View more Collapse

Nature Communications - 1/12/2022

10.1038/s41467-022-32904-x View at source

  • ISSN 20411723

Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells

  • López-Márquez A
  • Martínez-Pizarro A
  • Pérez B
  • Richard E
  • Desviat LR

Methods In Molecular Biology (p. 167-184) - 1/1/2022

10.1007/978-1-0716-2010-6_10 View at source

  • ISSN 10643745

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

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

This researcher has no books.

This researcher has no book chapters.

This researcher has no conferences.

This researcher has no working papers.

This researcher has no technical reports.

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

  • Álvarez García, Mar (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))
  • MARTINEZ PIZARRO, AINHOA (Investigador/a)
  • FULGENCIO COVIAN, ALEJANDRO (Investigador/a)
  • ALONSO BARROSO, ESMERALDA (Investigador/a)
  • MONTALVO DE LA PRIDA, ELENA (Investigador/a)
  • Ruiz Desviat, Lourdes (Investigador principal (IP))
... View more Collapse

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)
  • MARTINEZ PIZARRO, AINHOA (Autor o Coautor) Doctorando: Martínez Pizarro, Ainhoa

12/4/2019

  • iMarina

This researcher has no patents or software licenses.

Last data update: 8/28/24 11:46 AM