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Vilas Lagoa, Alicia alicia.vilas@uam.es

Biología molecular / Universidad Autónoma de Madrid

Publications

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation

  • Vilas, A.
  • Briso-Montiano, Á
  • Segovia-Falquina, C.
  • Martín-Martínez, A.
  • Soriano-Sexto, A.
  • Gallego, D.
  • Ruiz-Montes, V.
  • Gámez, A.
  • Pérez, B.
... View more Collapse

Molecular Genetics And Metabolism - 1/9/2024

10.1016/j.ymgme.2024.108538 View at source

  • ISSN 10967192

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of

  • Briso-Montiano, A
  • Vilas, A
  • Richard, E
  • Ruiz-Sala, P
  • Morato, E
  • Desviat, L R
  • Ugarte, M
  • Rodriguez-Pombo, P
  • Perez, B
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/9/2022

10.1016/j.bbadis.2022.166433 View at source

  • ISSN 09254439

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures

  • Briso-Montiano, Alvaro
  • Del Cano-Ochoa, Francisco
  • Vilas, Alicia
  • Velazquez-Campoy, Adrian
  • Rubio, Vicente
  • Perez, Belen
  • Ramon-Maiques, Santiago
... View more Collapse

Journal Of Inherited Metabolic Disease (p. 318-333) - 1/3/2022

10.1002/jimd.12461 View at source

  • ISSN 01418955

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones

  • Segovia-Falquina, Cristina
  • Vilas, Alicia
  • Leal, Fatima
  • del Cano-Ochoa, Francisco
  • Kirk, Edwin P
  • Ugarte, Magdalena
  • Ramon-Maiques, Santiago
  • Gamez, Alejandra
  • Perez, Belen
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Human Mutation (p. 1430-1442) - 1/10/2022

10.1002/humu.24431

  • ISSN 10597794
  • iMarina

Proteostasis regulators as potential rescuers of PMM2 activity

  • Vilas, A
  • Yuste-Checa, P
  • Gallego, D
  • Desviat, L R
  • Ugarte, M
  • Perez-Cerda, C
  • Gamez, A
  • Perez, B
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/7/2020

10.1016/j.bbadis.2020.165777 View at source

  • ISSN 09254439

New and potential strategies for the treatment of PMM2-CDG

  • Gamez, Alejandra
  • Serrano, Mercedes
  • Gallego, Diana
  • Vilas, Alicia
  • Perez, Belen

Biochimica Et Biophysica Acta-General Subjects - 1/11/2020

10.1016/j.bbagen.2020.129686 View at source

  • ISSN 00063002

This researcher has no books.

This researcher has no book chapters.

Development of a gene editing approach for the treatment of RPL5-deficient Diamond-Blackfan anemia patients

  • Palacios, M
  • Gimenez, Y
  • Peral, J
  • Vilas, A
  • Prosper, F
  • Leblanc, T
  • Belendez, C
  • Bueren, J
  • Navarro, S
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HUMAN GENE THERAPY (p. A154-A154) - 1/12/2022

  • ISSN 10430342
  • iMarina

Proteostasis regulators as a possible mutation-specific therapeutic approach for PMM2-CDG

  • Gallego, D
  • Vilas, A
  • Yuste, P
  • Desviat, L R
  • Ugarte, M
  • Perez-Cerda, C
  • Gamez, A
  • Perez, B
... View more Collapse

EUROPEAN JOURNAL OF HUMAN GENETICS (p. 1354-1354) - 1/10/2019

  • ISSN 10184813
  • iMarina

This researcher has no working papers.

This researcher has no technical reports.

Enfoque Cross-Omico para el descubrimiento de la base genética de errores innatos del metabolismo y para una intervencion terapeutica personalizada

  • BRAVO ALONSO, IRENE (Investigador/a)
  • ARRIBAS CARREIRA, LAURA (Investigador/a)
  • GALLEGO MARTINEZ, DIANA (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
  • SEGOVIA FALQUINA, CRISTINA (Investigador/a)
  • RUIZ SALA, PEDRO (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • LEAL PEREZ, M FATIMA (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • VILAS LAGOA, ALICIA (Investigador/a)
  • VEGA PAJARES, ANA ISABEL (Investigador/a)
... View more Collapse

Period: 01-01-2020 - 31-12-2022

Type of funding: National

Amount of funding: 244420,00 Euros.

  • iMarina

Desarrollo de modelos con fines diagnósticos y terapéuticos para la deficiencia de fosfomanomutasa 2

  • VILAS LAGOA, ALICIA (Titulado/a)
  • María Belén Pérez González (Director) Doctorando: Alicia Vilas Lagoa

1/1/2023

  • iMarina

This researcher has no patents or software licenses.

Last data update: 11/25/25 1:50 AM