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Molecular basis of skeletal disorders, Pavia
Research Group

University of Pavia
Department of Molecular Medicine, Unit of Biochemistry "A. Castellani"
via Taramelli, 3/b - 27100 Pavia - Italy

Background and specific aims

Extracellular matrix abnormalities due to genetic defects or to environmental or physical damages, cause different types of connective disorders. Our research focus on the molecular, cellular and extracellular matrix aspects of bone and cartilage through the study of specific heritable skeletal disorders including Osteogenesis Imperfecta (OI), Diastrophic Dysplasia (DTD), Desbuquois dysplasia type 1, Chondrodysplasia gPAPP type. This research topic has gained renewed strength thanks to the new strategies for the generation of in vivo and in vitro models that allow a deep characterization of skeletal diseases that would be difficult in humans for ethical reasons.

The specific aims are:

  • the understanding of the molecular basis of skeletal diseases to gain a deep knowledge of the structure-function relationships of extracellular matrix components and of the contribution of cellular, molecular and genetic factors to the initiation and progression of the disorders;
  • the development of effective approaches for the diagnosis, prevention and/or correction of the disorder course through new molecular and/or pharmacological trials.

These studies are closely related to skeletal disorders linked to aging.



Research projects
  • Deep characterization of dominant and recessive forms of the bone diseases, mainly focusing on Osteogenesis Imperfecta (PI: Antonella Forlino);
  • Deep phenotyping of cartilage disorders caused by defects in proteoglycan biosynthesis (PI: Antonio Rossi);
  • Identification of novel pharmacological targets to treat various skeletal dysplasias (PIs: Antonio Rossi & Antonella Forlino);
  • Developing of innovative gene therapy approaches to treat bone diseases (PI: Antonella Forlino).
Facilities and equipment


Generation of animal models (mouse and zebrafish) for skeletal disorders;

Cell extraction and culture of fibroblasts, osteoblasts, chondrocytes and mesenchymal stem cells from humans and mice;

Collagen and proteoglycan purification from different sources (in vitro and in vivo) and biochemical characterization;

Expression studies of cartilage and bone at the RNA and protein level.


Facilities and equipment

Cell culture facility; zebrafish and mouse animal facility; mass spectrometry facility; confocal facility; chromatography equipment (HPLC and FPLC); Real-time PCR; histological platform used for cartilage and bone histology (microtome, cryostat, light and fluorescent microscope), microinjection platform (microinjector and dissecting microscope), X-ray digital imaging apparatus for small size animals.


Dipartimento di Medicina Molecolare - Unità di Biochimica - Pavia

Recent pubblications
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin. - Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A. - Sci Rep, 6, 21540 ( 2016 )
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia. - Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A. - Hum Mol Genet, 24, 5570-80. ( 2015 )
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta. - Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A. - Hum Mol Genet, 24, 6118-33. ( 2015 )

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Last update: january 08th 2017 h 14:15
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