Donata Orioli

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


Curriculum Vitae – Download

Complete List of Publications – Download

Research Activity

Extensive experience and publication record in the field of molecular biology and biochemistry.

In the first years of her activity, she identified the in vivo function of several tyrosine kinase receptors in nervous system development by using the mouse gene targeting approach. Since 2006, her research has been focusing on the human syndromes xeroderma pigmentosum (XP), trichothiodistrophy (TTD) and Cockayne Syndrome (CS) that result from defects in nucleotide excision repair (NER), a versatile DNA repair system that removes a wide range of lesions, including UV photoproducts.

Major achievements in the field of NER defective disorders include: i) identification of a novel CSA mutation responsible for the UV-sensitive syndrome; ii) isolation of specific transcriptional failure affecting the extracellular matrix components of TTD primary cells and accounting for some of TTD clinical features; iii) identification of novel causative genes for the non-photosensitive form of TTD.

Research Projects

Research Group

Recent Publications


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


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


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, 0000.

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, 0000.

Abstract | Links | BibTeX

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, 0000.

Abstract | Links | BibTeX

Orioli D; Dellambra E

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

In: Cells, 7 (12), pp. 268, 0000.

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, 0000.

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, 0000.

Abstract | Links | BibTeX

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, 0000.

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, 0000.

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, 0000.

Abstract | Links | BibTeX

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), 0000.

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, 0000.

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, 0000.

Abstract | Links | BibTeX