Donata Orioli


Istituto di Genetica Molecolare “Luigi Luca Cavalli-Sforza” – CNR
Via Abbiategrasso, 207
27100 Pavia
Tel: 0382 546330 (uff.)/329-331 (lab.)

E-mail: donata.orioli@igm.cnr.it

Curriculum Vitae – Download

Elenco completo delle pubblicazioni – Download

Attività di ricerca

L’attività di ricerca è indirizzata a comprendere i meccanismi molecolari e biochimici della trasduzione del segnale coinvolto nel differenziamento cellulare e/o tissutale, nella carcinogenesi ed invecchiamento.

Particolare interesse è rivolto ai pathway molecolari alterati nello xeroderma pigmentosum (XP), nella tricotiodistrofia (TTD) e nella sindrome di Cockayne (CS), tre malattie ereditarie difettive nel meccanismo di riparazione del DNA mediante excisione di nucleotidi (NER) e in funzioni basali della trascrizione.

Scopo dell’attività è comprendere le molteplici funzioni delle proteine del NER e come le loro alterazioni siano responsabili di sintomi clinici molto diversi, quali l’elevata predisposizione all’insorgenza di tumori nei pazienti XP o l’invecchiamento precoce e la neurodegenerazione tipicamente presenti in CS e TTD. Lo studio è anche rivolto all’identificazione di nuovi geni malattia nei casi non ancora risolti a alla caratterizzazione cellulare e molecolare di pazienti con difetti nel NER. L’analisi sistematica dei pazienti, oltre che di supporto per la diagnosi clinica, ha portato a disporre di un’ampia collezione di cellule umane difettive nel NER che si sono rivelate un materiale fondamentale per studi più approfonditi a livello molecolare e funzionale.


Progetti di ricerca

Gruppo di  ricerca


Pubblicazioni Recenti

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

Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation Journal Article Forthcoming

In: Nucleic Acids Research, Forthcoming.

Abstract | Links | BibTeX

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.

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene Journal Article

In: Clinical genetics, 99 (6), pp. 842-848, 2021.

Abstract | Links | BibTeX

Botta E; Theil AF; Raams A; Caligiuri G; Giachetti S; Bione S; Accadia M; Lombardi A; Smith DEC; Mendes MI; Swagemakers SMA; van der Spek PJ; Salomons GS; Hoeijmakers JHJ; Yesodharan D; Nampoothiri S; Ogi T; Lehmann AR; Orioli D; Vermeulen W

Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy Journal Article Forthcoming

In: Human molecular genetics, Forthcoming.

Abstract | Links | BibTeX

Lombardi A; Arseni L; Carriero R; Compe E; Botta E; Ferri D; Uggè M; Biamonti G; Peverali FA; Bione S; Orioli D

Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy Journal Article

In: Proceedings of the National Academy of Sciences of the United States of America., 118 (26), 2021.

Abstract | Links | BibTeX

2020

Ferri D; Orioli D; Botta E

Heterogeneity and overlaps in nucleotide excision repair disorders. Journal Article

In: Clinical Genetics, 97 (1), pp. 12-24, 2020.

Abstract | Links | BibTeX

2019

Theil AF; Botta E; Raams A; Smith DEC; Mendes MI; Caligiuri G; Giachetti S; Bione S; Carriero R; Liberi G; Zardoni L; Swagemakers SMA; Salomons GS; Sarasin A; Lehmann A; van der Spek PJ; Ogi T; Hoeijmakers JHJ; Vermeulen W; Orioli D

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Journal Article

In: American Journal of Human Genetics, 105 (2), pp. 434-440, 2019.

Abstract | Links | BibTeX

Cordisco S; Tinaburri L; Teson M; Orioli D; Cardin R; Degan P; Stefanini M; Zambruno G; Guerra L; Dellambra E

Cockayne Syndrome Type a (CSA) Protein Protects Primary Human Keratinocytes from Senescence. Journal Article

In: Journal of investigative dermatology, 139 (1), pp. 38-59, 2019.

Abstract | Links | BibTeX

2018

Orioli D; Dellambra E

Epigenetic Regulation of Skin Cells in Natural Aging and Premature Aging Diseases. Journal Article

In: Cells, 7 (12), pp. 268, 2018.

Abstract | Links | BibTeX

Arseni L; Lombardi A; Orioli D

From Structure to Phenotype: Impact of Collagen Alterations on Human Health. Journal Article

In: International journal of molecular sciences, 19 (5), pp. e1407, 2018.

Abstract | Links | BibTeX

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

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Journal Article

In: Journal of medical genetics, 55 (5), pp. 329-343, 2018.

Abstract | Links | BibTeX

Ricotti R; Nardo T; Striano P; Stefanini M; Orioli D; Botta E

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. Journal Article

In: Clinical Genetics, 94 (3-4), pp. 386-388, 2018.

Abstract | Links | BibTeX

2017

Abou Khouzam R; Molinari C; Salvi S; Marabelli M; Molinaro V; Orioli D; Saragoni L; Morgagni P; Calistri D; Ranzani GN

Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer. Journal Article

In: Oncotarget, 8 (12), pp. 18811-18820, 2017.

Abstract | Links | BibTeX

2016

Kuschal C; Botta E; Orioli D; Digiovanna JJ; Seneca S; Keymolen K; Tamura D; Heller E; Khan SG; Caligiuri G; Lanzafame M; Nardo T; Ricotti R; Peverali FA; Stephens R; Zhao Y; Lehmann AR; Baranello L; Levens D; Kraemer KH; Stefanini M

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Journal Article

In: American Journal of Human Genetics, 98 (4), pp. 627-642, 2016.

Abstract | Links | BibTeX

Pascucci B; D'Errico M; Romagnoli A; De Nuccio C; Savino M; Pietraforte D; Lanzafame M; Calcagnile AS; Fortini P; Baccarini S; Orioli D; Degan P; Visentin S; Stefanini M; Isidoro C; Fimia GM; Dogliotti E

Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells Journal Article

In: Oncotarget, 8 (61), pp. 102852-102867, 2016.

Abstract | Links | BibTeX

2015

Lanzafame M; Botta E; Teson M; Fortugno P; Zambruno G; Stefanini M; Orioli D

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes. Journal Article

In: Experimental Dermatology, 24 (4), 2015.

Abstract | Links | BibTeX

Tintori C; La Sala G; Vignaroli G; Botta L; Fallacara AL; Falchi F; Radi M; Zamperini C; Dreassi E; Dello Iacono L; Orioli D; Biamonti G; Garbelli M; Lossani A; Gasparrini F; Tuccinardi T; Laurenzana I; Angelucci A; Maga G; Schenone S; Brullo C; Musumeci F; Desogus A; Crespan E; Botta M

Studies on the ATP Binding Site of Fyn Kinase for the Identification of New Inhibitors and Their Evaluation as Potential Agents against Tauopathies and Tumors. Journal Article

In: Journal of Medicinal Chemistry, 58 (11), pp. 4590-4609, 2015.

Abstract | Links | BibTeX

Arseni L; Lanzafame M; Compe E; Fortugno P; Afonso-Barroso A; Peverali FA; Lehmann AR; Zambruno G; Egly JM; Stefanini M; Orioli D

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin. Journal Article

In: Proceedings of the National Academy of Sciences of the United States of America, 112 (5), pp. 1499-1504, 2015.

Abstract | Links | BibTeX