Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p039 | (1) | ICCBH2017

Cystinosin deficiency affects bone phenotype

Battafarano Giulia , Rossi Michela , Di Giovamberardino Gianna , Pastore Anna , Taranta Anna , Del Fattore Andrea

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

ba0006p034 | (1) | ICCBH2017

Identification of bone remodelling alterations in Gorham-Stout disease

Rossi Michela , Battafarano Giulia , Buonuomo Paola Sabrina , Jenkner Alessandro , Rana Ippolita , De Vito Rita , Bartuli Andrea , Del Fattore Andrea

Objectives: Gorham-Stout disease (GSD) is a very rare disorder characterized by extensive angiomatous proliferation and progressive osteolysis without new bone formation. Only ~200 patients were reported. The quality of life is very poor since patients display pain, fractures, functional impairment and swelling of the affected regions. The ethiology of GSD is unknown. We aim to investigate the bone phenotype and to identify molecular and cellular defects in GSD patients.<p...

ba0002oc8 | Biology | ICCBH2013

Generation of the first mouse model of autosomal dominant type II osteopetrosis harbouring the pG213R-clc7 mutation

Del Fattore Andrea , Gray Amie , Ichikawa Shoji , Chu Kang , Mohammad Khalid S , Capannolo Marta , Capulli Mattia , Muraca Maurizio , Econs Michael J , Teti Anna , Alam Imranul

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...