Marco Lucarelli

Pubblicazioni

Titolo Pubblicato in Anno
Polymorphism of the 3′-UTR of the dopamine transporter gene (DAT) in New World monkeys PRIMATES 2017
New era of cystic fibrosis: full mutational analysis and personalized therapy WORLD JOURNAL OF MEDICAL GENETICS 2017
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles JOURNAL OF MEDICAL GENETICS 2017
A new targeted CFTR mutation panel based on next-generation sequencing technology THE JOURNAL OF MOLECULAR DIAGNOSTICS 2017
The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes MOLECULAR THERAPY NUCLEIC ACIDS 2016
A commentary on the novel complex allele [A238V; F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies (INVITED) JOURNAL OF HUMAN GENETICS 2016
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis. THE JOURNAL OF MOLECULAR DIAGNOSTICS 2016
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation FRONTIERS IN NEUROLOGY 2016
Environment, epigenetics and neurodegeneration: Focus on nutrition in Alzheimer's disease EXPERIMENTAL GERONTOLOGY 2015
Expression of ENaC subunits as an investigation tool of the interaction between CFTR and ENaC and therapeutic approaches by epigenetic manipulation and activity reduction. 2015
Left-sided early-onset vs late-onset colorectal carcinoma: histologic, clinical, and molecular differences AMERICAN JOURNAL OF CLINICAL PATHOLOGY 2015
Alcohol addiction: a molecular biology perspective. CURRENT MEDICINAL CHEMISTRY 2015
Disclosing bias in bisulfite assay: MethPrimers underestimate high DNA methylation. PLOS ONE 2015
Alcohol Dependence and Serotonin Transporter Functional Polymorphisms 5-HTTLPR and rs25531 in an Italian Population. ALCOHOL AND ALCOHOLISM 2015
Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects. PLOS ONE 2015
Clinical expression of patients with the D1152H CFTR mutation JOURNAL OF CYSTIC FIBROSIS 2015
A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. MOLECULAR MEDICINE 2015

ERC

  • LS1_3
  • LS2_2
  • LS2_3
  • LS2_4
  • LS2_14
  • LS3_12
  • LS3_13

KET

  • Life-science technologies & biotechnologies

Interessi di ricerca

- regulation of DNA methylation and demethylation processes in eukaryotic cells;

- DNA methylation, modulation of gene expression and cell differentiation;

- molecular mechanisms of the gene therapy by small fragment homologous replacement (SFHR);

- molecular genetics of cystic fibrosis and of CFTR-related disorders and study of the genotype/phenotype relationship in this diseases;

- theratyping of cystic fibrosis;

- functional characterization of CFTR (cystic fibrosis transmembrane conductance regulator) and ENaC (epithelial sodium channel) genes in physiologic and pathologic conditions;

- molecular diagnostic methodologies and pathogenetic mechanisms underlying cystic fibrosis, CFTR-related disorders, atherosclerosis, alcohol addiction and neurological disorders;

- setup and automation of mutational search methodologies.

Keywords

cystic fibrosis
DNA methylation
Personalized therapy
gene editing

Progetti di Ricerca

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