ArticleMolecular therapy. Nucleic acids2015
Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2.
Article in Molecular therapy. Nucleic acids, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- HR-pQCT measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Isolation and Generation of Osteoclasts.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Effect of Allele-Specific Clcn7Calcified tissue international · 2024Article
- Novel hybrid silicon-lipid nanoparticles deliver a siRNA to cure autosomal dominant osteopetrosis in mice. Implications for gene therapy in humans.Molecular therapy. Nucleic acids · 2023Article
- Autosomal dominant osteopetrosis.Bone · 2023Review
- Review
- Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- CRISPR/Cas therapeutic strategies for autosomal dominant disorders.The Journal of clinical investigation · 2022Review
- A Novel Variant inFrontiers in cell and developmental biology · 2020Article
- Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.Frontiers in endocrinology · 2020Review
- Extra-skeletal manifestations in mice affected byBone research · 2019Article
- Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice.PloS one · 2019Article
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
- Small non-coding RNAs-based bone regulation and targeting therapeutic strategies.Molecular and cellular endocrinology · 2017Review
- Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.Frontiers in pharmacology · 2016Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
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 mice showed reduced bone resorption, a condition rescued by Clcn7(G213R)-specific siRNA. Treatment of ADO2 mice with Clcn7(G213R)-specific siRNA induced increase of bone resorption variables and decrease of trabecular bone mass, leading to an overall improvement of the osteopetrotic bone phenotype. Treatment did not induce overt adverse effects and was effective also with siRNAs specific for other mutants. These results demonstrate that a siRNA-based experimental treatment of ADO2 is feasible, and underscore a translational impact for future strategy to cure this therapeutically neglected form of osteopetrosis.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.