Antonia Ribes

Grup de recerca

Malalties metabòliques hereditàries i malalties musculars Emeritus researcher

aribes@clinic.cat 0000-0002-2249-246X

Publicacions destacades

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Autors:
Tort, Frederic; Ugarteburu, Olatz; Texido, Laura; Gea-Sorli, Sabrina; Garcia-Villoria, Judit;

(...)

Cardellach, Francesc; Wanders, Ronald J A; Fillat, Cristina; Teresa Garcia-Silva, Maria; Ribes, Antonia.

Referència: Human Mutation 2019.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Autors:
Matalonga, Leslie; Bravo, Miren; Serra-Peinado, Carla; Garcia-Pelegri, Elisabeth; Ugarteburu, Olatz;

(...)

Ribes, Antonia; Egea, Gustavo; Briones, Paz; Tort, Frederic; Giros, Marisa.

Referència: Human Mutation 2017.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Autors:
Dario Ortigoza-Escobar; Juan Molero-Luis; Marta Arias; Angela Oyarzabal; Alfonso Darin;

(...)

Johannes A. Rodriguez-Pombo; Pilar Ribes; Antonia Artuch; Rafael Perez-Duenas; Belen.

Referència: Brain 2016.
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated ketoacid dehydrogenase complexes

Autors:
Tort, Frederic; Ferrer-Cortes, Xenia; Thio, Marta; Navarro-Sastre, Aleix; Matalonga, Leslie;

(...)

Vianey-Saban, Christine; Artuch, Rafael; Garcia-Cazorla, Angels; Briones, Paz; Ribes, Antonia.

Referència: Human Molecular Genetics 2014.
Neuronopathic Gaucher''s disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Autors:
Tiscornia, Gustavo; Lorenzo Vivas, Erika; Matalonga, Leslie; Berniakovich, Ina; Barragan Monasterio, Montserrat;

(...)

Ortiz Mellet, Carmen; Garcia Fernandez, Jose Manuel; Ribes, Antonia; Veiga, Anna; Izpisua Belmonte, Juan Carlos.

Referència: Human Molecular Genetics 2014.

Projectes destacats

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric acidura type I in Gdch -/- mice

Investigador/a principal: Antonia Ribes Rubio

Finançador: Fundación Ramón Areces

Codi: CIVP19S8539

Durada: 03/04/2019 - 02/04/2022
Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3 -metilglutacónica

Investigador/a principal: Antonia Ribes Rubio

Finançador: Instituto de Salud Carlos III

Codi: PI16/01048

Durada: 01/01/2017 - 30/06/2020
SLT002/16/00174: Implementació de la medicina personalitzada basada en la genómica en malalties minoritaries neurologiques no diagnosticades

Investigador/a principal: Antonia Ribes Rubio

Finançador: HOSPITAL CLINICO Y PROVINCIAL DE BARCELONA (Sede o evento); Generalitat de Catalunya

Durada: 01/01/2017 - 01/01/2019
PI12/01138: Identificación de pacientes con mutaciones en genes implicados en la biosíntesis y transporte de cofactores del metabolismo energético mitocondrial

Investigador/a principal: Antonia Ribes Rubio

Finançador: HOSPITAL CLINICO Y PROVINCIAL DE BARCELONA (Sede o evento); Instituto de Salud Carlos III

Durada: 01/01/2013 - 01/01/2015
Proyecto Europeo: European Network and registry for Homocystinurias and Methylation Defects

Finançador: HOSPITAL CLINICO Y PROVINCIAL DE BARCELONA (Sede o evento); Registro Europeo DG-SANCO

Durada: 01/01/2013 - 01/01/2015

Antonia Ribes

Grup de recerca

Publicacions destacades

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated ketoacid dehydrogenase complexes

Neuronopathic Gaucher''s disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Projectes destacats

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric acidura type I in Gdch -/- mice

Identificación y caracterización de nuevos defectos del metabolismo energético mitocondrial asociados a aciduria 3 -metilglutacónica

SLT002/16/00174: Implementació de la medicina personalitzada basada en la genómica en malalties minoritaries neurologiques no diagnosticades

PI12/01138: Identificación de pacientes con mutaciones en genes implicados en la biosíntesis y transporte de cofactores del metabolismo energético mitocondrial

Proyecto Europeo: European Network and registry for Homocystinurias and Methylation Defects

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