Frederic Tort

Research group

Inherited Metabolic Diseases and Muscular Disorders Accredited researcher (R3A-CIBER)

ftort@recerca.clinic.cat 0000-0003-2733-1603

Featured publications

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

Authors:
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.

Reference: Human Mutation 2019.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Authors:
Altassan R; Péanne R; Jaeken J; Barone R; Bidet M;

(...)

Vals MA; Videira P; Witters P; Zeevaert R; Morava E .

Reference: Journal Of Inherited Metabolic Disease 2019.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Authors:
Garcia-Villoria, Judit; De Azua, Begona; Tort, Frederic; Mosegaard, Signe; Ugarteburu, Olatz;

Texido, Laura; Morales-Romero, Blai; Olsen, Rikke K J; Ribes, Antonia.

Reference: Clinical Genetics 2018.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

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

(...)

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

Reference: Human Mutation 2017.
Differential diagnosis of lipoic acid synthesis defects

Authors:
Tort F; Ferrer-Cortes X; Ribes A ;

Reference: Journal Of Inherited Metabolic Disease 2016.
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Authors:
Ferrer-Cortes, Xenia; Narbona, Juan; Bujan, Nuria; Matalonga, Leslie; Del Toro, Mireia;

(...)

Alston, Charlotte L; Taylor, Robert W; Briones, Paz; Ribes, Antonia; Tort, Frederic.

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

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

(...)

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

Reference: Human Molecular Genetics 2014.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

Authors:
Ferrer-Cortes, Xenia; Font, Aida; Bujan, Nuria; Navarro-Sastre, Aleix; Matalonga, Leslie;

(...)

Garcia-Cazorla, Angels; Campistol, Jaume; Briones, Paz; Ribes, Antonia; Tort, Frederic.

Reference: Journal Of Inherited Metabolic Disease 2013.

Featured Projects

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

Principal investigator: Antonia Ribes Rubio

Funder: Instituto de Salud Carlos III

Code: PI16/01048

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

Principal investigator: Antonia Ribes Rubio

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

Duration: 01/01/2017 - 01/01/2019
Identification of genes involved in 3-methylglutaconic aciduria and congentital disorders of glycosylation

Principal investigator: Frederic Tort

Duration: 01/01/2016 - 31/12/2016
Indentification of genes involved in Inherited Metabolic diseases

Principal investigator: Frederic Tort

Duration: 01/01/2014 - 31/12/2014
Identificación de pacientes con mutaciones en genes implicados en la biosíntesis y transporte de cofactores del metabolismo energético mitocondrial

Principal investigator: Ribes A

Funder: Instituto de Salud Carlos III (ISCIII) (Promotor)

Code: PI12/01138

Duration: 01/01/2013

Frederic Tort

Research group

Featured publications

Featured Projects

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

Identification of genes involved in 3-methylglutaconic aciduria and congentital disorders of glycosylation

Indentification of genes involved in Inherited Metabolic diseases

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

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