about
Altered thymidine metabolism due to defects of thymidine phosphorylaseExpression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutationLimited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Determination of xanthine oxidoreductase forms: influence of reaction conditions.Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.Uridine metabolism in HIV-1-infected patients: effect of infection, of antiretroviral therapy and of HIV-1/ART-associated lipodystrophy syndrome.SAMHD1 specifically affects the antiviral potency of thymidine analog HIV reverse transcriptase inhibitorsFeeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.Cell cycle control and HIV-1 susceptibility are linked by CDK6-dependent CDK2 phosphorylation of SAMHD1 in myeloid and lymphoid cells.Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.Increased tumour necrosis factor alpha production in mesenteric lymph nodes of cirrhotic patients with ascitesThymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Darunavir and ritonavir total and unbound plasmatic concentrations in HIV-HCV-coinfected patients with hepatic cirrhosis compared to those in HIV-monoinfected patientsLimb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.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.Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.Quantification of mitochondrial DNA copy number: pre-analytical factors.Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.Thymidine phosphorylase mutations cause instability of mitochondrial DNA.Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
P50
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P50
description
hulumtues
@sq
researcher
@en
հետազոտող
@hy
name
Ramon Martí
@ast
Ramon Martí
@en
Ramon Martí
@es
Ramon Martí
@nl
Ramon Martí
@sl
type
label
Ramon Martí
@ast
Ramon Martí
@en
Ramon Martí
@es
Ramon Martí
@nl
Ramon Martí
@sl
altLabel
Ramon Marti
@en
prefLabel
Ramon Martí
@ast
Ramon Martí
@en
Ramon Martí
@es
Ramon Martí
@nl
Ramon Martí
@sl
P106
P1153
56844811300
7103137276
P21
P31
P496
0000-0002-8273-9540
P569
2000-01-01T00:00:00Z