Martinez Pizarro, Ainhoa ainhoa.martinez@uam.es

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

  • Soria, LR
  • Makris, G
  • D'Alessio, AM
  • De Angelis, A
  • Boffa, I
  • Pravata, VM
  • Rüfenacht, V
  • Attanasio, S
  • Nusco, E
  • Arena, P
  • Ferenbach, AT
  • Paris, D
  • Cuomo, P
  • Motta, A
  • Nitzahn, M
  • Lipshutz, GS
  • Martínez-Pizarro, A
  • Richard, E
  • Desviat, LR
  • Häberle, J
  • van Aalten, DMF
  • Brunetti-Pierri, N
... 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.

  • Martinez-Pizarro, A
  • Dembic, M
  • Perez, B
  • Andresen, BS
  • Desviat, LR

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

10.1371/journal.pgen.1007360 View at source

  • ISSN 15537390

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

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

Plos One (p. e0150357-e0150357) - 1/3/2016

10.1371/journal.pone.0150357 View at source

  • ISSN 19326203

This researcher has no books.

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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) Doctorando: MARTINEZ PIZARRO, AINHOA

12/4/2019

  • iMarina

This researcher has no patents or software licenses.

Last data update: 2/26/26 12:23 PM