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Gamez Abascal, Maria Alejandra alejandra.gamez@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

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

  • Gallego D
  • Serrano M
  • Cordoba-Caballero J
  • Gámez A
  • Seoane P
  • Perkins JR
  • Ranea JAG
  • Pérez B
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024

10.1016/j.bbadis.2024.167163 View at source

  • ISSN 09254439

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
... View more Collapse

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

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

  • Gallego, Diana
  • Leal, Fatima
  • Gamez, Alejandra
  • Castro, Margarita
  • Navarrete, Rosa
  • Sanchez-Lijarcio, Obdulia
  • Vitoria, Isidro
  • Bueno-Delgado, Maria
  • Belanger-Quintana, Amaya
  • Morais, Ana
  • Pedron-Giner, Consuelo
  • Garcia, Inmaculada
  • Campistol, Jaume
  • Artuch, Rafael
  • Alcaide, Carlos
  • Cornejo, Veronica
  • Gil, David
  • Yahyaoui, Raquel
  • Desviat, Lourdes R
  • Ugarte, Magdalena
  • Martinez, Aurora
  • Perez, Belen
... View more Collapse

Human Mutation (p. 1329-1338) - 1/7/2020

Editor: John Wiley and Sons Inc.

10.1002/humu.24026 View at source

  • ISSN 10597794
  • ISSN/ISBN 1098-1004

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

Protein misfolding diseases: prospects of pharmacological treatment.

  • Gamez, A
  • Yuste-Checa, P
  • Brasil, S
  • Briso-Montiano, A
  • Desviat, L R
  • Ugarte, M
  • Perez-Cerda, C
  • Perez, B
... View more Collapse

Clinical Genetics (p. 450-458) - 1/3/2018

10.1111/cge.13088

  • ISSN 00099163
  • iMarina

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type

  • Brasil, S
  • Briso-Montiano, A
  • Gamez, A
  • Underhaug, J
  • Flydai, M I
  • Desviat, L
  • Merinero, B
  • Ugarte, M
  • Martinez, A
  • Perez, B
... View more Collapse

Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 640-648) - 1/2/2018

10.1016/j.bbadis.2017.11.024 View at source

  • ISSN 09254439

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations

  • Rivera-Barahona, Ana
  • Navarrete, Rosa
  • Garcia-Rodriguez, Raquel
  • Richard, Eva
  • Ugarte, Magdalena
  • Perez-Cerda, Celia
  • Perez, Belen
  • Gamez, Alejandra
  • Desviat, Lourdes R
... View more Collapse

Molecular Genetics And Metabolism (p. 266-275) - 1/11/2018

10.1016/j.ymgme.2018.09.008 View at source

  • ISSN 10967192

DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress

  • Yuste-Checa, Patricia
  • Vega, Ana I
  • Martin-Higueras, Cristina
  • Medrano, Celia
  • Gamez, Alejandra
  • Desviat, Lourdes R
  • Ugarte, Magdalena
  • Perez-Cerda, Celia
  • Perez, Belen
... View more Collapse

Plos One (p. e0179456-e0179456) - 1/6/2017

10.1371/journal.pone.0179456

  • ISSN 19326203
  • iMarina

This researcher has no books.

Chaperone-like therapy with Tetrahydrobiopterin in Clinical trials for Phenylketonuria: is Genotype a predictor of response?

  • Sarkissian CN
  • Gamez A
  • Scott P
  • Dauvillier J
  • Dorenbaum A
  • Scriver CR
  • Stevens RC
... View more Collapse

Jimd Reports (p. 59-70) - 1/1/2012

10.1007/8904_2011_96 View at source

  • ISSN 21928304

Optimization process of potential pharmacological chaperone development: Looking for a PMM2-CDG therapy

  • Briso-Montiano, A
  • Gamez, A
  • Brasil, S
  • Desviat, L R
  • Ugarte, M
  • Garcia-Fernandez, J
  • Perez-Cerda, C
  • Perez, B
... View more Collapse

European Journal Of Human Genetics (p. 199-200) - 1/7/2019

  • ISSN 10184813
  • 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

Proteostasis regulators as a new therapeutic approach for PMM2-CDG

  • Gamez Abascal, Maria Alejandra

7/9/2018

  • iMarina

Adaptive tests as a supporting tool for self-evaluation in theoretical and practical contents in Biochemistry

  • Comas-Lopez, M
  • Piotr Hincz, Kajetan
  • Gamez, Alejandra
  • Yanez-Mo, Maria
  • Sacha, G M

Acm International Conference Proceeding Series (p. 180-184) - 24/10/2018

10.1145/3284179.3284212 View at source

Identification and functional characterization of novel mutations in propionic acidemia

  • Gamez Abascal, Maria Alejandra

1/1/2018

  • iMarina

Toward a folding therapy for PMM2-CDG.

  • Gamez Abascal, Maria Alejandra

Journal Of Inherited Metabolic Disease - 8/9/2016

  • ISSN 01418955
  • iMarina

“Pharmacological chaperoning for neurometabolic disorders: Therapeutic strategy applicble to PMM2-CDG“.

  • Gamez Abascal, Maria Alejandra

Libro De Abstracts Del Congreso. - 8/3/2016

  • iMarina

Identification of pharmacological chaperones that increase stability and activity of missense folding mutations in PMM2-CDG

  • Gamez Abascal, Maria Alejandra

Journal Of Inherited Metabolic Disease - 1/9/2015

  • ISSN 01418955
  • iMarina

“Characterization of PMM2 mutations: identification of target mutants for specific pharmacological chaperone therapy”

  • Yuste Checa, P
  • Sierra Gonzalez, A
  • Gamez Abascal, Maria Alejandra
  • Underhaug, J
  • Martinell, M
  • Desviat, L. R
  • Ugarte, M
  • Perez Cerda, C
  • Martinez, A
  • Perez, B
... View more Collapse

Journal Of Inherited Metabolic Disease - 1/1/2013

  • ISSN 01418955
  • iMarina

Oral pegylated phenylalanine ammonia lyase, the next step in enzyme substitution therapy for the hyperphenylalaninemias.

  • Sarkissian, C. N.
  • Kang, T. S.
  • Gamez, A.
  • Scriver, C. R.
  • Stevens, R. C.;

Journal Of Inherited Metabolic Disease (p. S95-S95) - 1/8/2011

  • ISSN 01418955
  • iMarina

This researcher has no working papers.

Biopterin responsive phenylalanine hydroxylase deficiency

  • Matalon, R
  • Koch, R
  • Michals-Matalon, K
  • Moseley, K
  • Surendran, S
  • Tyring, S
  • Erlandsen, H
  • Gamez, A
  • Stevens, RC
  • Romstad, A
  • Moller, LB
  • Guttler, F
... View more Collapse

Genetics In Medicine (p. 27-32) - 1/1/2004

10.1097/01.gim.0000108840.17922.a7 View at source

  • ISSN 10983600

Advanced design of e-Learning applications personalizing teaching to improve virtual education

  • Sacha Gómez Moñivas (Investigador principal (IP))
  • Gil Casadomet, Aránzazu (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Participante)

Period: 15-03-2020 - 31-12-2020

  • iMarina

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 terapia con chaperonas farmacológicas para el defecto congénito de glicosilación PMM2-CDG

  • Gamez Abascal, Maria Alejandra (Investigador/a)

Period: 01-01-2018 - 31-12-2020

Type of funding: National

  • iMarina

Developing an antisense therapy for the frequent Phenylketonuria splicing mutation c.1066-11G>A

  • Gamez Abascal, Maria Alejandra (Coordinador/a científico/a)

Period: 01-11-2017 - 31-12-2018

  • iMarina

Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas

  • BRAVO ALONSO, IRENE (Investigador/a)
  • LEAL PEREZ, M FATIMA (Investigador/a)
  • MERINERO CORTES, BEGOÑA (Investigador/a)
  • VEGA PAJARES, ANA ISABEL (Investigador/a)
  • NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
  • PEREZ CERDA, Celia (Investigador/a)
  • ECAY CRESPO, M JESUS (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Rodriguez Pombo, Pilar (Investigador/a)
  • Arduim Brasil, Sandra Dolores (Investigador/a)
... View more Collapse

Period: 01-01-2017 - 31-12-2019

Type of funding: National

Amount of funding: 212052,50 Euros.

  • iMarina

Acidemia metilmalónica: Identificación de genes responsables, generación de modelos celulares de enfermedas e investigación en terapias.

  • LEAL PEREZ, M FATIMA (Investigador/a)
  • VEGA PAJARES, ANA ISABEL (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))
  • Ana Isabel Vega Pajares (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Yuste Checa, Patricia (Investigador/a)
  • M Fatima Leal Perez (Investigador/a)
... View more Collapse

Period: 01-01-2014 - 31-12-2016

  • iMarina

Desarrollo de chaperonas farmacológicas para el tratamiento de infermedades raras neurometabólicas.

  • Gamez, Alejandra (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2013 - 31-12-2016

  • iMarina

Proteomica y estudios celulares de estrés oxidativo y apoptosis en ennfermedades metabólicas hereditaias: avances en la fisiopatología y tratamiento.

  • Margarita Castro Reguera (Investigador/a)
  • Gamez Abascal, Maria Alejandra (Investigador/a)
  • Richard Rodriguez, Eva Maria (Investigador principal (IP))

Period: 01-01-2011 - 31-12-2013

  • iMarina

Nuevas terapias en enfermedades metabólicas hereditarias: Terapia génica de modificación de mRNAs y chaperonas farmacológicas.

  • Gamez, Alejandra (Investigador/a)
  • Sandra Arduim Brasil (Investigador/a)
  • Ugarte Perez, Magdalena (Investigador/a)
  • Fatima Leal Perez (Investigador/a)
  • Ana Isabel Vega Pajares (Investigador/a)
  • Perez Gonzalez, Maria Belen (Investigador principal (IP))

Period: 01-01-2011 - 31-12-2013

  • iMarina

Terapias alternativas para enfermedades metabólicas hereditaria.

  • Gamez Abascal, Maria Alejandra (Investigador principal (IP))

Period: 01-02-2010 - 28-02-2015

  • iMarina

Different loading requirements of cohesin-STAG1 and cohesin-STAG2

  • Losada, Ana (Director)
  • Gámez Abascal, Alejandra (Tutor) Doctorando: Alonso Gil, Dácil del Pilar

18/5/2023

  • iMarina

Molecular elements involved in replication and transmission of prions

  • Torres Trillo, Juan María (Director)
  • Gámez Abascal, Alejandra (Tutor) Doctorando: Marín Moreno, Alba

25/9/2020

  • iMarina

Fenilcetonuria análisis genético de la hiperfenilalaninemia benigna y efecto de mutaciones en la proteína fenilalanina hidroxilasa

  • Satrustegui Gil Delgado, Jorgina (Autor o Coautor)
  • Alejandra Gámez Abascal (Titulado/a)
  • Alejandra Gámez Abascal (Director)
  • Ruiz Desviat, Lourdes (Autor o Coautor) Doctorando: Alejandra Gámez Abascal

1/1/2001

  • iMarina

Compounds for treating congenital disorders of Glycosylation.

  • Gamez Abascal, Maria Alejandra (Inventores/autores/obtentores)

1/1/2016

  • iMarina

Compositions of prokaryotic phenylalanine ammonia-lyase and methods of treating cancer using compositions thereof

  • Gamez Abascal, Maria Alejandra (Autor o Coautor)

1/1/2009

  • iMarina

Compositions of prokaryotic phenylalanine ammonia-lyase and methods of using compositions thereof

  • Gamez Abascal, Maria Alejandra (Autor o Coautor)

1/1/2007

  • iMarina

Chemically modified variants and variant formulations of Botulinum Neurotoxin Type A

  • Gamez Abascal, Maria Alejandra (Inventores/autores/obtentores)

1/1/2006

  • iMarina

Pegylation of phenylalanine degradation enzymes for therapeutic use.

  • Gamez Abascal, Maria Alejandra (Inventores/autores/obtentores)

1/1/2005

  • iMarina

Sexenio de Transferencia reconocido

  • Gamez Abascal, Maria Alejandra

1/1/2005

  • iMarina

Variants and chemically-modified variants of phenylalanine ammonia-lyase.

  • Gamez Abascal, Maria Alejandra (Inventores/autores/obtentores)

1/1/2004

  • iMarina
Last data update: 11/24/25 11:18 PM