Tiziana Nardo

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product (2003)

Rapic-Otrin, Vesna, Navazza, Valentina, Nardo, Tiziana, Botta, Elena, McLenigan, Mary, Bisi, Dawn C., ...

Xeroderma pigmentosum (XP) is a skin cancer-prone autosomal recessive disease characterized by inability to repair UV-induced DNA damage. The major form of XP is defective in nucleotide excision...

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy (2002)

Botta, Elena, Nardo, Tiziana, Lehmann, Alan R., Egly, Jean-Marc, Pedrini, Antonia M., Stefanini, Miria

Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER) as a consequence of mutations in XPD, XPB or TTDA, three genes that are...

Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant (2001)

Queimado, Lurdes, Rao, Malini, Schultz, Roger A., Koonin, Eugene V., Aravind, L., Nardo, Tiziana, ...

The MMS19 gene of the yeast Saccharomyces cerevisiae encodes a polypeptide of unknown function which is required for both nucleotide excision repair (NER) and RNA polymerase II (RNAP II)...

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene (2001)

Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, Elaine M., Arlett, Colin F., Nardo, Tiziana, ...

The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal transcription and nucleotide excision repair....

Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum (2000)

Colella, Stefano, Nardo, Tiziana, Botta, Elena, Lehmann, Alan R., Stefanini, Miria

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two hereditary disorders in which photosensitivity is associated with distinct clinical and cellular phenotypes and results from genetically...

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy (1993)

Stefanini, Miria, Lagomarsini, Paola, Giliani, Silvia, Nardo, Tiziana, Botta, Elena, Peserico, Andrea, ...

Trichothiodystrophy (TTD) is a rare autosomal recessive disease characterized by brittle hair with reduced sulfur content, mental and physical retardation, a peculiar face and ichthyosis....

Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant

Queimado, Lurdes, Rao, Malini, Schultz, Roger A., Koonin, Eugene V., Aravind, L., Nardo, Tiziana, ...

The MMS19 gene of the yeast Saccharomyces cerevisiae encodes a polypeptide of unknown function which is required for both nucleotide excision repair (NER) and RNA polymerase II (RNAP II)...

Relationship of the Xeroderma Pigmentosum Group E DNA Repair Defect to the Chromatin and DNA Binding Proteins UV-DDB and Replication Protein A

Rapić Otrin, Vesna, Kuraoka, Isao, Nardo, Tiziana, McLenigan, Mary, Eker, A. P. M., Stefanini, Miria, ...

Cells from complementation groups A through G of the heritable sun-sensitive disorder xeroderma pigmentosum (XP) show defects in nucleotide excision repair of damaged DNA. Proteins representing...

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome

Berneburg, Mark, Lowe, Jillian E., Nardo, Tiziana, Araújo, Sofia, Fousteri, Maria I., Green, Michael H.L., ...

Nucleotide excision repair (NER) removes damage from DNA in a tightly regulated multiprotein process. Defects in NER result in three different human disorders, xeroderma pigmentosum (XP),...

Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant

Queimado, Lurdes, Rao, Malini, Schultz, Roger A., Koonin, Eugene V., Aravind, L., Nardo, Tiziana, ...

The MMS19 gene of the yeast Saccharomyces cerevisiae encodes a polypeptide of unknown function which is required for both nucleotide excision repair (NER) and RNA polymerase II (RNAP II)...

Relationship of the Xeroderma Pigmentosum Group E DNA Repair Defect to the Chromatin and DNA Binding Proteins UV-DDB and Replication Protein A

Rapić Otrin, Vesna, Kuraoka, Isao, Nardo, Tiziana, McLenigan, Mary, Eker, A. P. M., Stefanini, Miria, ...

Cells from complementation groups A through G of the heritable sun-sensitive disorder xeroderma pigmentosum (XP) show defects in nucleotide excision repair of damaged DNA. Proteins representing...

UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome

Berneburg, Mark, Lowe, Jillian E., Nardo, Tiziana, Araújo, Sofia, Fousteri, Maria I., Green, Michael H.L., ...

Nucleotide excision repair (NER) removes damage from DNA in a tightly regulated multiprotein process. Defects in NER result in three different human disorders, xeroderma pigmentosum (XP),...

DNA nucleotide excision repair-dependent signaling to checkpoint activation

Marini, Federica, Nardo, Tiziana, Giannattasio, Michele, Minuzzo, Mario, Stefanini, Miria, Plevani, Paolo, ...

Eukaryotic cells respond to a variety of DNA insults by triggering a common signal transduction cascade, known as checkpoint response, which temporarily halts cell-cycle progression. Although the...

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Nardo, Tiziana, Oneda, Roberta, Spivak, Graciela, Vaz, Bruno, Mortier, Laurent, Thomas, Pierre, ...

UV-sensitive syndrome (UVSS) is a recently-identified autosomal recessive disorder characterized by mild cutaneous symptoms and defective transcription-coupled repair (TC-NER), the subpathway of...