Ontology highlight
ABSTRACT:
SUBMITTER: Capulli M
PROVIDER: S-EPMC4877447 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Capulli Mattia M Maurizi Antonio A Ventura Luca L Rucci Nadia N Teti Anna A
Molecular therapy. Nucleic acids 20150901
In about 70% of patients affected by autosomal dominant osteopetrosis type 2 (ADO2), osteoclast activity is reduced by heterozygous mutations of the CLCN7 gene, encoding the ClC-7 chloride/hydrogen antiporter. CLCN7(G215R)-, CLCN7(R767W)-, and CLCN7(R286W)-specific siRNAs silenced transfected mutant mRNA/EGFP in HEK293 cells, in RAW264.7 cells and in human osteoclasts, with no change of CLCN7(WT) mRNA and no effect of scrambled siRNA on the mutant transcripts. Osteoclasts from Clcn7(G213R) ADO2 ...[more]