Gamez Abascal, Maria Alejandra alejandra.gamez@uam.es
Actividades
- Artículos 35
- Libros 0
- Capítulos de libro 1
- Congresos 33
- Documentos de trabajo 0
- Informes técnicos 1
- Proyectos de investigación 23
- Tesis dirigidas 3
- Patentes o licencias de software 7
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
- Gallego, Diana
- Serrano, Mercedes
- Cordoba-Caballero, Jose
- Gamez, Alejandra
- Seoane, Pedro
- Perkins, James R
- Ranea, Juan A G
- Perez, Belen
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 24/4/2024
- ISSN 09254439
- iMarina
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones
- Segovia-Falquina C, Vilas A, Leal F, Del Caño-Ochoa F, Kirk EP, Ugarte M, Ramón-Maiques S, Gámez A, Pérez B
Human Mutation (p. 1430-1442) - 1/10/2022
- ISSN 10597794
- iMarina
Proteostasis regulators as potential rescuers of PMM2 activity
- Vilas A
- Yuste-Checa P
- Gallego D
- Desviat LR
- Ugarte M
- Pérez-Cerda C
- Gámez A
- Pérez B
Biochimica Et Biophysica Acta. Molecular Basis Of Disease - 1/7/2020
10.1016/j.bbadis.2020.165777 Ver en origen
- 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;
Human Mutation (p. 1329-1338) - 1/7/2020
Editor: John Wiley and Sons Inc.
10.1002/humu.24026 Ver en origen
- ISSN 10597794
- ISSN/ISBN 1098-1004
New and potential strategies for the treatment of PMM2-CDG
- Gámez A
- Serrano M
- Gallego D
- Vilas A
- Pérez B
Biochimica Et Biophysica Acta-General Subjects - 1/11/2020
10.1016/j.bbagen.2020.129686 Ver en origen
- ISSN 00063002
Protein misfolding diseases: prospects of pharmacological treatment.
- Gámez A, Yuste-Checa P, Brasil S, Briso-Montiano Á, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B
Clinical Genetics (p. 450-458) - 1/3/2018
- ISSN 00099163
- iMarina
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type
- Brasil S
- Briso-Montiano A
- Gámez A
- Underhaug J
- Flydal M
- Desviat L
- Merinero B
- Ugarte M
- Martinez A
- Pérez B
Biochimica Et Biophysica Acta. Molecular Basis Of Disease (p. 640-648) - 1/2/2018
10.1016/j.bbadis.2017.11.024 Ver en origen
- ISSN 09254439
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations
- Rivera-Barahona A
- Navarrete R
- García-Rodríguez R
- Richard E
- Ugarte M
- Pérez-Cerda C
- Pérez B
- Gámez A
- Desviat L
Molecular Genetics And Metabolism (p. 266-275) - 1/11/2018
10.1016/j.ymgme.2018.09.008 Ver en origen
- ISSN 10967192
DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress
- Yuste-Checa P
- Vega A
- Martin-Higueras C
- Medrano C
- Gamez A
- Desviat L
- Ugarte M
- Perez-Cerda C
- Perez B
Plos One - 1/6/2017
- ISSN 19326203
- iMarina
Pharmacological Chaperoning: A Potential Treatment For PMM2-CDG
- Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B
Human Mutation (p. 160-168) - 1/2/2017
10.1002/humu.23138 Ver en origen
- ISSN 10597794
Este/a investigador/a no tiene libros.
Chaperone-like therapy with Tetrahydrobiopterin in Clinical trials for Phenylketonuria: is Genotype a predictor of response?
- Sarkissian, Christineh N.
- Gamez, Alejandra
- Scott, Patrick
- Dauvillier, Jerome
- Dorenbaum, Alejandro
- Scriver, Charles R.
- Stevens, Raymond C.;
Jimd Reports (p. 59-70) - 1/1/2012
10.1007/8904_2011_96 Ver en origen
- ISSN 21928304
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
- Hincz K
- Gámez A
- Yáñez-Mo M
- Sacha G
Acm International Conference Proceeding Series (p. 180-184) - 24/10/2018
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
Journal Of Inherited Metabolic Disease - 1/1/2013
- 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
Terapias Alternativas para la Fenilcetonuria
- Gamez Abascal, Maria Alejandra
1/6/2010
- iMarina
Alternative therapies for inherited metabolic diseases: Phenylketonuria
- Gamez Abascal, Maria Alejandra
11/12/2010
- iMarina
Este/a investigador/a no tiene documentos de trabajo.
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, Møller LB, Guttler F
Genetics In Medicine (p. 27-32) - 1/1/2004
10.1097/01.gim.0000108840.17922.a7 Ver en origen
- 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)
Ejecución: 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
- 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)
- BRAVO ALONSO, IRENE (Investigador/a)
- ARRIBAS CARREIRA, LAURA (Investigador/a)
- GALLEGO MARTINEZ, DIANA (Investigador/a)
- NAVARRETE LOPEZ DE SORIA, Rosa Maria (Investigador/a)
Ejecución: 01-01-2020 - 31-12-2022
Tipo: Nacional
Importe financiado: 244420,00 Euros.
- iMarina
Desarrollo de terapia con chaperonas farmacológicas para el defecto congénito de glicosilación PMM2-CDG
- Gamez Abascal, Maria Alejandra (Investigador/a)
Ejecución: 01-01-2018 - 31-12-2020
Tipo: Nacional
- iMarina
Developing an antisense therapy for the frequent Phenylketonuria splicing mutation c.1066-11G>A
- Gamez Abascal, Maria Alejandra (Coordinador/a científico/a)
Ejecución: 01-11-2017 - 31-12-2018
- iMarina
Enfermedades neurometabólicas hereditarias: avances en el diagnóstico, la patofisiología y desarrollo de terapias dirigidas a estabilizar proteínas
- Gamez Abascal, Maria Alejandra (Investigador/a)
- Rodriguez Pombo, Pilar (Investigador/a)
- Arduim Brasil, Sandra Dolores (Investigador/a)
- Perez Gonzalez, Maria Belen (Investigador principal (IP))
Ejecución: 01-01-2017 - 31-12-2019
Tipo: Nacional
Importe financiado: 212052,50 Euros.
- iMarina
Acidemia metilmalónica: Identificación de genes responsables, generación de modelos celulares de enfermedas e investigación en terapias.
- 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)
Ejecución: 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))
Ejecución: 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))
Ejecución: 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))
Ejecución: 01-01-2011 - 31-12-2013
- iMarina
Different loading requirements of cohesin-STAG1 and cohesin-STAG2
- Losada, Ana (Director)
- Gamez Abascal, Maria 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)
- Gamez Abascal, Maria 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
Perfiles de investigador/a
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ORCID
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Scopus Author ID
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Dialnet id