List of works - Frederic Tort

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

scientific article published on November 2011

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

scientific article published on 11 December 2015

ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances

scientific article published in January 2002

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

scientific article published on 02 January 2020

BMI-1 gene amplification and overexpression in hematological malignancies occur mainly in mantle cell lymphomas

scientific article published on 01 March 2001

CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas

scientific article published in August 2002

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

scientific article published on 13 February 2018

Checkpoint kinase 1 (CHK1) protein and mRNA expression is downregulated in aggressive variants of human lymphoid neoplasms

scientific article published in January 2005

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis

scientific article (publication date: 14 April 2005)

Differential diagnosis of lipoic acid synthesis defects.

scientific article

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

scientific article published on 21 July 2010

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

scientific article

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

scientific article

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

scientific article published on 01 December 2018

Familial lymphoid neoplasms in patients with mantle cell lymphoma.

scientific article published in March 2004

Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma.

scientific article

Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms

scientific article

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

scientific article published on 01 January 2019

Lipoic acid biosynthesis defects.

scientific article published on 29 April 2014

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

scientific article published on 18 October 2016

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

scientific article published on 31 August 2012

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

scientific article published on 10 January 2019

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

scientific article published on 17 May 2019

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

scientific article published on 20 November 2013

Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints

scientific article (publication date: 30 November 2006)

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

scientific article published on 26 March 2020

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

scientific article published on 22 November 2012

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue ⬇️

scientific article published on June 22, 2011

Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

scientific article published on November 2006

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

scientific article published on 5 August 2011

List of works by Frederic Tort

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

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

ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances

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

BMI-1 gene amplification and overexpression in hematological malignancies occur mainly in mantle cell lymphomas

CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction.

Checkpoint kinase 1 (CHK1) protein and mRNA expression is downregulated in aggressive variants of human lymphoid neoplasms

Clinical presentation and proteomic signature of patients with TANGO2 mutations

DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis

Differential diagnosis of lipoic acid synthesis defects.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Familial lymphoid neoplasms in patients with mantle cell lymphoma.

Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma.

Immunohistochemical analysis of ZAP-70 expression in B-cell lymphoid neoplasms

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

Lipoic acid biosynthesis defects.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

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

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints

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

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

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue ⬇️

Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria