Antonia Ribes Rubio

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Institut d'Investigacions Biomèdiques August Pi i Sunyer

Spain

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Recent Grants

Grant: Close

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

Open Date: 2017-01-01

Close Date: 2019-01-01

Grant: Close

Estudios de dinámica mitocondrial, composición de fosfolípidos y de otros parámetros relacionados con el metabolismo energético mitocondrial en pacientes con aciduria 3-metilglutacónica

Open Date: 2017-01-01

Close Date: 2017-12-01

Grant: Close

Implementació de la medicina personalitzada basada en la genómica en malalties minoritaries neurologiques no diagnosticades

Open Date: 2017-01-01

Close Date: 2019-01-01

Grant: Close

Desarrollo de una estrategia de terapia génica para el tratamiento de la acidúria glutárica tipo I y valoración de la eficacia de edición genómica in vivo.

Open Date: 2017-01-01

Close Date: 2018-01-01

Grant: Close

Grup d'estudi de malalties metabòliques hereditàries

Open Date: 2014-01-01

Close Date: 2017-01-01

Articles (11)

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2023

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2023

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2023

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2022

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2020

Collaborators (6)

Holger Prokisch

University Medical Center

GERMANY

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Daniel Grinberg

Full Professor

University of Barcelona

SPAIN

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Julian Schröter

Heidelberg University

GERMANY

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Dolors Casellas-Vidal

Institut Català de la Salut

SPAIN

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Julien Gagneur

Technical University of Munich

GERMANY

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Alex Garanto

Assistant Professor & Junior Principal Investigator

Radboudumc

NETHERLANDS

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Antonia Ribes Rubio

Research Interests

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Recent Grants

Articles (11)

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease

Newborn Screening for SCID. Experience in Spain (Catalonia)

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Collaborators (6)

Holger Prokisch

Daniel Grinberg

Julian Schröter

Dolors Casellas-Vidal

Julien Gagneur

Alex Garanto

Make your next move.

Antonia Ribes Rubio

Research Interests

Explore related searches

Contact this professor

Recent Grants

Articles (11)

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson&rsquo;s Disease

Newborn Screening for SCID. Experience in Spain (Catalonia)

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

Collaborators (6)

Holger Prokisch

Daniel Grinberg

Julian Schröter

Dolors Casellas-Vidal

Julien Gagneur

Alex Garanto

Make your next move.

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease