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Article

Effect of Allele-Specific Clcn7G213R siRNA Delivered Via a Novel Nanocarrier on Bone Phenotypes in ADO2 Mice on 129S Background.

Calcified tissue international - 1 Jul 2024

Saffie-Siebert Suzanne, Alam Imranul, Sutera Flavia Maria, Dehsorkhi Ashkan, Torabi-Pour Nissim, Baran-Rachwalska Paulina, Iamartino Luca, Teti Anna, Maurizi Antonio, Gerard-O'Riley Rita L, Acton Dena, Econs Michael J

Abstract excerpt

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disorder characterised by dense but brittle bones. It displays striking phenotypic variability, with the most severe symptoms, including blindness and bone marrow failure. Disease management largely relies on symptomatic treatment since there is no safe and effective treatment. Most ADO2 cases are caused by heterozygous loss-of-function...

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Identifiers

PMID: 38733412
DOI: 10.1007/s00223-024-01222-3

Genes

CLCN7

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