Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p444 | Other diseases of bone and mineral metabolism | ECTS2016

Deep characterization of a zebrafish model for dominant osteogenesis imperfecta

Tonelli Francesca , Gioia Roberta , Biggiogera Marco , Fisher Shannon , Leikin Sergey , Schinke Thorsten , Rossi Antonio , Forlino Antonella

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

ba0007is10 | (1) | ICCBH2019

Endoplasmic reticulum stress in osteoblasts

Besio Roberta , Tonelli Francesca , Garibaldi Nadia , Leoni Laura , Cotti Silvia , Forlino Antonella

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

ba0007is10 | (1) | IMPE2023

Endoplasmic reticulum stress in osteoblasts

Besio Roberta , Tonelli Francesca , Garibaldi Nadia , Leoni Laura , Cotti Silvia , Forlino Antonella

Bone tissue homeostasis requires the coordinated activity of osteoblasts, the bone forming cells, of osteoclasts, the bone resorbing cells, and of osteocytes, generally referred as the bone mechano-sensors. In this contest, osteoblasts are the mesenchymal cells secreting the extracellular matrix components on which hydroxyapatite crystals are then deposited. The most abundant protein of this organic matrix is type I collagen, a heterotrimeric secretory protein, synthesized as ...

ba0006is03 | (1) (1) | ICCBH2017

Bone cells in health and disease

Besio Roberta , Gioia Roberta , Tonelli Francesca , Ceppi Ilaria , Leoni Laura , Atta Linda Ofori , Rossi Antonio , Forlino Antonella

Bone is a complex tissue constituted by a mineral phase, hydroxyapatite, and an organic phase, mainly represented by collagen type I. Specialized cells are responsible for bone formation and remodeling. Osteoblasts represent the bone forming cells, osteocyte are the orchestrator of bone remodeling through regulation of the other bone cells activity, by functioning as endocrine cells and by acting as mechanosensor, and osteoclasts, the bone resorbing cells. Mesenchymal osteopro...

ba0007p37 | (1) | ICCBH2019

Generation of osteogenesis imperfecta type XIV zebrafish models

Leoni Laura , Tonelli Francesca , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Besio Roberta , Garibaldi Nadia , Rossi Antonio , Forlino Antonella

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

ba0007p37 | (1) | IMPE2023

Generation of osteogenesis imperfecta type XIV zebrafish models

Leoni Laura , Tonelli Francesca , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Besio Roberta , Garibaldi Nadia , Rossi Antonio , Forlino Antonella

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...

ba0004oc12 | (1) | ICCBH2015

A zebrafish osteogenesis imperfecta model: a new tool to develop novel pharmacological treatments

Gioia Roberta , Tonelli Francesca , Carra Silvia , Cotelli Franco , Bianchi Laura , Gagliardi Assunta , Bini Luca , Biggiogera Marco , Leikin Sergey , Fisher Shannon , Rossi Antonio , Tenni Ruggero , Forlino Antonella

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...

ba0007oc19 | (1) | ICCBH2019

Altered 3 hydroxylation complex in bone homeostasis

Tonelli Francesca , Leoni Laura , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Fiedler Imke , Besio Roberta , Rossi Antonio , Busse Bjorn , Witten Eckhard , Forlino Antonella

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...

ba0007oc19 | (1) | IMPE2023

Altered 3 hydroxylation complex in bone homeostasis

Tonelli Francesca , Leoni Laura , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Fiedler Imke , Besio Roberta , Rossi Antonio , Busse Bjorn , Witten Eckhard , Forlino Antonella

Objectives: Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone deformity and skeletal fragility. Cartilage associated protein (CRTAP), proline 3-Hydroxylase 1 (P3H1) and Cyclophylin B (PPIB) are components of the endoplasmic reticulum (ER)-resident complex involved in the 3-hydroxylation of specific proline residues in collagen type I α chains. Mutations in these proteins are responsible for recessive OI type VII, VIII and IX, respectively. Murine ...