List of works - Ramon Martí

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

scientific article

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

scientific article published on 12 November 2004

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

scientific article published on 20 December 2013

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 10 August 2015

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

scientific article

Altered thymidine metabolism due to defects of thymidine phosphorylase

scientific article (publication date: 8 February 2002)

Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

scientific article published on January 2012

Cell cycle control and HIV-1 susceptibility are linked by CDK6-dependent CDK2 phosphorylation of SAMHD1 in myeloid and lymphoid cells

scientific article

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

scientific article published on 03 December 2008

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation

scientific article published in May 2007

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

scientific article published on 15 October 2020

Darunavir and ritonavir total and unbound plasmatic concentrations in HIV-HCV-coinfected patients with hepatic cirrhosis compared to those in HIV-monoinfected patients

scientific article

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA ⬇️

scientific article published on December 1, 2001

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

scientific article published on 18 November 2003

Determination of xanthine oxidoreductase forms: influence of reaction conditions.

scientific article

Effect of Insulin Administration on Serum Lipoprotein(a) and Its Phenotypes in New-Onset IDDM Patients ⬇️

scientific article published on 01 May 1998

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

scientific article published in March 2003

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

scientific article

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

scientific article

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

scientific article

Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA

scientific article published on 01 December 2005

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome

scientific article

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

scientific article published on 22 January 2014

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene

scientific article published in August 2010

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE ⬇️

scientific article published on March 31, 2011

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

scientific article

Increased tumour necrosis factor alpha production in mesenteric lymph nodes of cirrhotic patients with ascites

scientific article published on July 2003

Infusion of platelets transiently reduces nucleoside overload in MNGIE

scientific article published on 13 September 2006

Interleukin-6, nitric oxide, and the clinical and hemodynamic alterations of patients with liver cirrhosis

scientific article published on 01 January 1999

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

scientific article

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

scientific article published in October 2005

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

scientific article published on 29 March 2013

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

scientific article

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

scientific article

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

scientific article published on 19 March 2010

Measurement of mitochondrial dNTP pools

scientific article

Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.

scientific article

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

scientific article published in November 2002

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 12 November 2003

Nitric oxide may contribute to nocturnal hemodynamic changes in cirrhotic patients

scientific article published on 01 June 2000

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

scientific article published on 21 August 2014

Palbociclib, a selective inhibitor of cyclin-dependent kinase4/6, blocks HIV-1 reverse transcription through the control of sterile α motif and HD domain-containing protein-1 (SAMHD1) activity

scientific article published on September 2014

Pleural fluid myeloperoxidase as a marker of infectious pleural effusions

scientific article published on 01 July 2001

Pleural-fluid myeloperoxidase in complicated and noncomplicated parapneumonic pleural effusions

scientific article published on 01 February 2002

Polyphosphate is involved in cell cycle progression and genomic stability in Saccharomyces cerevisiae

scientific article published on 03 May 2016

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

scientific article published on 8 January 2018

Quantification of mitochondrial DNA copy number: pre-analytical factors

scientific article published on 9 March 2009

SAMHD1 specifically affects the antiviral potency of thymidine analog HIV reverse transcriptase inhibitors

scientific article

Serum laminin as a marker of diabetic retinopathy development: a 4-year follow-up study

scientific article published on 01 March 2000

Soluble interleukin-6 receptor levels in liver cirrhosis

scientific article published on 01 October 1999

Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

article

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

scientific article

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

scientific article published on October 2004

Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 8 May 2014

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

scientific article published in July 2005

Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts

scientific article published on 16 January 2009

Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lipodystrophy syndrome

scientific article

List of works by Ramon Martí

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.

Altered thymidine metabolism due to defects of thymidine phosphorylase

Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

Cell cycle control and HIV-1 susceptibility are linked by CDK6-dependent CDK2 phosphorylation of SAMHD1 in myeloid and lymphoid cells

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Darunavir and ritonavir total and unbound plasmatic concentrations in HIV-HCV-coinfected patients with hepatic cirrhosis compared to those in HIV-monoinfected patients

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA ⬇️

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays

Determination of xanthine oxidoreductase forms: influence of reaction conditions.

Effect of Insulin Administration on Serum Lipoprotein(a) and Its Phenotypes in New-Onset IDDM Patients ⬇️

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE ⬇️

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

Increased tumour necrosis factor alpha production in mesenteric lymph nodes of cirrhotic patients with ascites

Infusion of platelets transiently reduces nucleoside overload in MNGIE

Interleukin-6, nitric oxide, and the clinical and hemodynamic alterations of patients with liver cirrhosis

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

Measurement of mitochondrial dNTP pools

Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

Nitric oxide may contribute to nocturnal hemodynamic changes in cirrhotic patients

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

Palbociclib, a selective inhibitor of cyclin-dependent kinase4/6, blocks HIV-1 reverse transcription through the control of sterile α motif and HD domain-containing protein-1 (SAMHD1) activity

Pleural fluid myeloperoxidase as a marker of infectious pleural effusions

Pleural-fluid myeloperoxidase in complicated and noncomplicated parapneumonic pleural effusions

Polyphosphate is involved in cell cycle progression and genomic stability in Saccharomyces cerevisiae

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

Quantification of mitochondrial DNA copy number: pre-analytical factors

SAMHD1 specifically affects the antiviral potency of thymidine analog HIV reverse transcriptase inhibitors

Serum laminin as a marker of diabetic retinopathy development: a 4-year follow-up study

Soluble interleukin-6 receptor levels in liver cirrhosis

Thymidine Phosphorylase Gene Mutations Cause Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts

Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lipodystrophy syndrome