ArticleScientific reports2017
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Effects of Per- and Polyfluoroalkyl Compounds (PFASs) on Anaerobic Granular Sludge: Methane Production and Microbial Community Composition.Microbial ecology · 2026Article
- Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Current osteoporosis reports · 2026Review
- Sorting Nexin 10 Mediates Endosomal Acidification and Autophagy to Promote Influenza A Virus Infection.Viruses · 2026Article
- Cell signaling and transcriptional regulation of osteoclast lineage commitment, differentiation, bone resorption and diseases.Cell discovery · 2026Review
- Elevated surface La promotes hyperfusion and contributes to impaired resorption in osteopetrosis.bioRxiv : the preprint server for biology · 2025Article
- Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2.The Journal of cell biology · 2025Article
- Formation of Membrane Domains via Actin Waves: A Fundamental Principle in the Generation of Dynamic Structures in Phagocytes.International journal of molecular sciences · 2025Review
- SNX10 functions as a modulator of piecemeal mitophagy and mitochondrial bioenergetics.The Journal of cell biology · 2025Article
- SNX10 in autosomal recessive osteosclerosis, osteosarcoma, rheumatoid arthritis, and osteoporosis: molecular mechanisms and therapeutic implications.Frontiers in cell and developmental biology · 2025Review
- Preclinical Rodent Models for Human Bone Disease, Including a Focus on Cortical Bone.Endocrine reviews · 2024Review
- Osteopetrorickets: two contradictory patterns-one unifying diagnosis.Skeletal radiology · 2024Article
- Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report.BMC oral health · 2023Article
- An inducible explant model of osteoclast-osteoprogenitor coordination in exacerbated osteoclastogenesis.iScience · 2023Article
- Sorting nexin 10 sustains PDGF receptor signaling in glioblastoma stem cells via endosomal protein sorting.JCI insight · 2023Article
- Cell surface-bound La protein regulates the cell fusion stage of osteoclastogenesis.Nature communications · 2023Article
- Glycan degradation promotes macroautophagy.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Nox4 expression in osteo-progenitors controls bone development in mice during early life.Communications biology · 2022Article
- Osteoclast activity sculpts craniofacial form to permit sensorineural patterning in the zebrafish skull.Frontiers in endocrinology · 2022Article
- Intermediate Autosomal Recessive Osteopetrosis With an Unusual Absence of Fractures.Ochsner journal · 2022Article
- An SNX10-dependent mechanism downregulates fusion between mature osteoclasts.Journal of cell science · 2021Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Tonsillar herniation, foramen magnum stenosis, and severe osteomyelitis of the jaw were common clinical features. Whole exome sequencing, verified by Sanger sequencing, identified a splice site mutation c.212 + 1 G > T in the SNX10 gene encoding sorting nexin 10. Sequence analysis of the SNX10 transcript in patients revealed activation of a cryptic splice site in intron 4 resulting in a frame shift and a premature stop (p.S66Nfs * 15). Haplotype analysis showed that all cases originated from a single mutational event, and the age of the mutation was estimated to be approximately 950 years. Functional analysis of osteoclast progenitors isolated from peripheral blood of patients revealed that stimulation with receptor activator of nuclear factor kappa-B ligand (RANKL) resulted in a robust formation of large, multinucleated osteoclasts which generated sealing zones; however these osteoclasts exhibited defective ruffled borders and were unable to resorb bone in vitro.
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