Loredana Marcia


Area of interest:

I have many years of expertise and experience in molecular and cell biology, developmental biology, gene regulation and expression, maintenance and characterization of mouse models. I have been working on the functional characterization of the FOXL2 and CRLF1 proteins, involved respectively in the Blepharophimosisi/Ptosis/Epicanthus inversus (BPES) and the Crisponi/CISS1 (CS/CISS1) syndromes and on the phenotypic characterization of a Foxl2 knockout mouse, a model for human BPES, to understand the physiopathological mechanisms underlying female fertility and skeletal development.
My main skill is in immune-histochemistry analysis in eukaryotic cells and murine tissues, covering tissue collection and sample preparation, immunohistochemical staining and visualization by bright field, immunofluorescence, and confocal microscopy.

Most significant publications:


Angius, A.; Uva, P.; Buers, I.; Oppo, M.; Puddu, A.; Onano, S.; Persico, I.; Loi, A.; Marcia, L.; H?hne, W.; Cuccuru, G.; Fotia, G.; Deiana, M.; Marongiu, M.; Atalay, H. T.; Inan, S.; El Assy, O.; Smit, L. M. E.; Okur, I.; Boduroglu, K.; Utine, G. E.; Kılıç, E.; Zampino, G.; Crisponi, G.; Crisponi, L.; Rutsch, F.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Journal Article

In: 102 (4), pp. 713, 2018.



Marongiu, Mara; Deiana, Manila; Marcia, Loredana; Sbardellati, Andrea; Asunis, Isadora; Meloni, Alessandra; Angius, Andrea; Cusano, Roberto; Loi, Angela; Crobu, Francesca; Fotia, Giorgio; Cucca, Francesco; Schlessinger, David; Crisponi, Laura

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation Journal Article

In: Developmental Biology, 416 (1), pp. 200–211, 2016, ISSN: 1095-564X.

Abstract | Links | BibTeX


Marongiu, Mara; Marcia, Loredana; Pelosi, Emanuele; Lovicu, Mario; Deiana, Manila; Zhang, Yonqing; Puddu, Alessandro; Loi, Angela; Uda, Manuela; Forabosco, Antonino; Schlessinger, David; Crisponi, Laura

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice Journal Article

In: BMC developmental biology, 15 , pp. 27, 2015, ISSN: 1471-213X.

Abstract | Links | BibTeX


Marongiu, M.; Deiana, M.; Meloni, A.; Marcia, L.; Puddu, A.; Cao, A.; Schlessinger, D.; Crisponi, L.

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity Journal Article

In: PLoS One, 5 (3), pp. e9477, 2010.

Abstract | BibTeX