Frederic Tort

Grup de recerca

Malalties metabòliques hereditàries i malalties musculars Accredited researcher (R3A-CIBER)

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

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

Autors:
Altassan, Ruqaiah; Peanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad;

(...)

Vals, Mari-Anne; Videira, Paula; Witters, Peter; Zeevaert, Renate; Morava, Eva.

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

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

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

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

Autors:
Matalonga, L; Bravo, M; García-Pelegrí, E; Ugarteburu, O; Vidal, S;

(...)

Dopazo, J; Garcia-Garcia, F; Foulquier, F; Matthijs, G; Mills, P.

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

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

Referència: Journal Of Inherited Metabolic Disease 2016.
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Autors:
Tort, Frederic; Ugarteburu, Olatz; Angeles Torres, Maria; Garcia-Villoria, Judit; Giros, Marisa;

Ruiz, Angeles; Ribes, Antonia.

Referència: Pediatrics 2016.
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

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

(...)

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

Referència: Mitochondrion 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.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

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

(...)

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

Referència: Journal Of Inherited Metabolic Disease 2013.

Projectes destacats

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: Generalitat de Catalunya

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

Investigador/a principal: Frederic Tort

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

Investigador/a principal: Frederic Tort

Durada: 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

Investigador/a principal: Ribes A

Codi: PI12/01138

Durada: 01/01/2013

Frederic Tort

Grup de recerca

Publicacions destacades

Projectes destacats

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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