NARDO, TIZIANA
NARDO, TIZIANA
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy
2022 Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation
2021 Lanzafame M; Branca G; Landi C; Qiang M; Vaz B; Nardo T; Ferri D; Mura M; Iben S; Stefanini M; Peverali FA; Bini L; Orioli D.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene
2021 Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A.
A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage
2018 Perucca P; Mocchi R; Guardamagna I; Bassi E; Sommatis S; Nardo T; Prosperi E; Stivala LA; Cazzalini O
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
2018 Calmels, N; Botta, E; Jia, N; Fawcett, H; Nardo, T; Nakazawa, Y; Lanzafame, M; Moriwaki, S; Sugita, K; Kubota, M; Obringer, C; Spitz, Ma; Stefanini, M; Laugel, V; Orioli, D; Ogi, T; Lehmann, Ar
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features
2018 Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
2016 Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Anam. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
2016 Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M.
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
2015 Corbett, Ma; Duddingbyth, T; Crock, Pa; Botta, E; Christie, Lm; Nardo, T; Caligiuri, G; Hobson, L; Boyle, J; Mansour, A; Friend, Kl; Crawford, J; Jackson, G; Vandeleur, L; Hackett, A; Tarpey, P; Stratton, Mr; Turner, G; Gécz, J; Field, M
CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis
2014 Cazzalini, O; Sommatis, S; Tillhon, M; Dutto, I; Bachi, A; Rapp, A; Nardo, T; Scovassi, Ai; Necchi, D; Cardoso, Mc; Stivala, La; Prosperi, E
From laboratory tests to functional characterisation of Cockayne syndrome
2013 Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M
Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack
2013 Oksenych V; Zhovmer A; Ziani S; Mari PO; Eberova J; Nardo T; Stefanini M; GigliaMari G; Egly JM; Coin F.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia
2013 Kashiyama, K; Nakazawa, Y; Pilz, Dt; Guo, C; Shimada, M; Sasaki, K; Fawcett, H; Wing, Jf; Lewin, So; Carr, L; Li, Ts; Yoshiura, Ki; Utani, A; Hirano, A; Yamashita, S; Greenblatt, D; Nardo, T; Stefanini, M; Mcgibbon, D; Sarkany, R; Fassihi, H; Takahashi, Y; Nagayama, Y; Mitsutake, N; Lehmann, Ar; Ogi, T
Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress.
2013 Soltys, Dt; Rocha, Cr; Lerner, Lk; de Souza, Ta; Munford, V; Cabral, F; Nardo, T; Stefanini, M; Sarasin, A; Cabralneto, Jb; Menck, Cf
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
2013 Orioli, D; Compe, E; Nardo, T; Mura, M; Giraudon, C; Botta, E; Arrigoni, L; Peverali, Fa; Egly, Jm; Stefanini, M
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
2012 Nakazawa, Y; Sasaki, K; Mitsutake, N; Matsuse, M; Shimada, M; Nardo, T; Takahashi, Y; Ohyama, K; Ito, K; Mishima, H; Nomura, M; Kinoshita, A; Ono, S; Takenaka, K; Masuyama, R; Kudo, T; Slor, H; Utani, A; Tateishi, S; Yamashita, S; Stefanini, M; Lehmann, Ar; Yoshiura, K; Ogi, T
p300/CBP acetyl transferases interact with and acetylate the nucleotide excision repair factor XPG.
2012 Tillhon, M; Cazzalini, O; Nardo, T; Necchi, D; Sommatis, S; Stivala, La; Scovassi, Ai; Prosperi, E
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
2009 Nardo, T; Oneda, R; Spivak, G; Vaz, B; Mortier, L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A Stefanini M
Degradation of p21(CDKN1A) after DNA damage is independent of type of lesion, and is not required for DNA repair.
2009 Savio M; Coppa T; Cazzalini O; Perucca P; Necchi D; Nardo T; Stivala LA; Prosperi E
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene.
2009 Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy | 1-gen-2022 | Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E | |
| Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation | 1-gen-2021 | Lanzafame M; Branca G; Landi C; Qiang M; Vaz B; Nardo T; Ferri D; Mura M; Iben S; Stefanini M; Peverali FA; Bini L; Orioli D. | |
| Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene | 1-gen-2021 | Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A. | |
| A damaged DNA binding protein 2 mutation disrupting interaction with proliferating-cell nuclear antigen affects DNA repair and confers proliferation advantage | 1-gen-2018 | Perucca P; Mocchi R; Guardamagna I; Bassi E; Sommatis S; Nardo T; Prosperi E; Stivala LA; Cazzalini O | |
| Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. | 1-gen-2018 | Calmels, N; Botta, E; Jia, N; Fawcett, H; Nardo, T; Nakazawa, Y; Lanzafame, M; Moriwaki, S; Sugita, K; Kubota, M; Obringer, C; Spitz, Ma; Stefanini, M; Laugel, V; Orioli, D; Ogi, T; Lehmann, Ar | |
| Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features | 1-gen-2018 | Ricotti R.; Nardo T.; Striano P.; Stefanini M.; Orioli D.; Botta E. | |
| Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect | 1-gen-2016 | Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Anam. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R. | |
| GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy | 1-gen-2016 | Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.; Stefanini M. | |
| A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A | 1-gen-2015 | Corbett, Ma; Duddingbyth, T; Crock, Pa; Botta, E; Christie, Lm; Nardo, T; Caligiuri, G; Hobson, L; Boyle, J; Mansour, A; Friend, Kl; Crawford, J; Jackson, G; Vandeleur, L; Hackett, A; Tarpey, P; Stratton, Mr; Turner, G; Gécz, J; Field, M | |
| CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis | 1-gen-2014 | Cazzalini, O; Sommatis, S; Tillhon, M; Dutto, I; Bachi, A; Rapp, A; Nardo, T; Scovassi, Ai; Necchi, D; Cardoso, Mc; Stivala, La; Prosperi, E | |
| From laboratory tests to functional characterisation of Cockayne syndrome | 1-gen-2013 | Lanzafame, M; Vaz, B; Nardo, T; Botta, E; Orioli, D; Stefanini, M | |
| Histone Methyltransferase DOT1L Drives Recovery of Gene Expression after a Genotoxic Attack | 1-gen-2013 | Oksenych V; Zhovmer A; Ziani S; Mari PO; Eberova J; Nardo T; Stefanini M; GigliaMari G; Egly JM; Coin F. | |
| Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia | 1-gen-2013 | Kashiyama, K; Nakazawa, Y; Pilz, Dt; Guo, C; Shimada, M; Sasaki, K; Fawcett, H; Wing, Jf; Lewin, So; Carr, L; Li, Ts; Yoshiura, Ki; Utani, A; Hirano, A; Yamashita, S; Greenblatt, D; Nardo, T; Stefanini, M; Mcgibbon, D; Sarkany, R; Fassihi, H; Takahashi, Y; Nagayama, Y; Mitsutake, N; Lehmann, Ar; Ogi, T | |
| Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. | 1-gen-2013 | Soltys, Dt; Rocha, Cr; Lerner, Lk; de Souza, Ta; Munford, V; Cabral, F; Nardo, T; Stefanini, M; Sarasin, A; Cabralneto, Jb; Menck, Cf | |
| XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. | 1-gen-2013 | Orioli, D; Compe, E; Nardo, T; Mura, M; Giraudon, C; Botta, E; Arrigoni, L; Peverali, Fa; Egly, Jm; Stefanini, M | |
| Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. | 1-gen-2012 | Nakazawa, Y; Sasaki, K; Mitsutake, N; Matsuse, M; Shimada, M; Nardo, T; Takahashi, Y; Ohyama, K; Ito, K; Mishima, H; Nomura, M; Kinoshita, A; Ono, S; Takenaka, K; Masuyama, R; Kudo, T; Slor, H; Utani, A; Tateishi, S; Yamashita, S; Stefanini, M; Lehmann, Ar; Yoshiura, K; Ogi, T | |
| p300/CBP acetyl transferases interact with and acetylate the nucleotide excision repair factor XPG. | 1-gen-2012 | Tillhon, M; Cazzalini, O; Nardo, T; Necchi, D; Sommatis, S; Stivala, La; Scovassi, Ai; Prosperi, E | |
| A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. | 1-gen-2009 | Nardo, T; Oneda, R; Spivak, G; Vaz, B; Mortier, L; Thomas, P; Orioli, D; Laugel, V; Stary, A; Hanawalt, Pc; Sarasin, A Stefanini M | |
| Degradation of p21(CDKN1A) after DNA damage is independent of type of lesion, and is not required for DNA repair. | 1-gen-2009 | Savio M; Coppa T; Cazzalini O; Perucca P; Necchi D; Nardo T; Stivala LA; Prosperi E | |
| Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. | 1-gen-2009 | Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M. |