ArticleHuman genetics2008
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 43 citations in OpenAlex.
- Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.The Journal of clinical investigation · 2017Trial
- Article
- The First Large Deletion ofBiomedicines · 2023Article
- Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.Frontiers in endocrinology · 2023Article
- Disorders of phosphate homeostasis in children, part 1: primer on mineral ion homeostasis and the roles of phosphate in skeletal biology.Pediatric radiology · 2022Review
- Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.International journal of molecular sciences · 2022Article
- Young woman with hypophosphatasia: A case report.Clinical case reports · 2022Article
- Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.Journal of bone and mineral metabolism · 2021Article
- Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.Calcified tissue international · 2021Article
- TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism.International journal of molecular sciences · 2021Review
- New structural variations responsible for Charcot-Marie-Tooth disease: The first two largeComputational and structural biotechnology journal · 2021Article
- Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Review
- Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.Human mutation · 2020Article
- Genetic analysis of adults heterozygous for ALPL mutations.Journal of bone and mineral metabolism · 2018Article
- Article
- Hypophosphatasia: an overview of the disease and its treatment.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2015Review
- Clinical utility gene card for: hypophosphatasia - update 2013.European journal of human genetics : EJHG · 2014Article
- Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012Article
- Clinical utility gene card for: hypophosphatasia.European journal of human genetics : EJHG · 2011Article
- Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.BMC medical genetics · 2009Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The dominant negative effect of mutations is rare in metabolic diseases and its mechanism has not been studied much. Hypophosphatasia, a bone inherited metabolic disorder, is a good model because the disease can be dominantly transmitted. The gene product activity depends on a homodimeric configuration and many mutations have been reported in the ALPL gene responsible for the disease. Using CFP/YFP-tagged-TNSALP plasmids, transfections in COS cells and confocal fluorescence analyses, we studied the point mutation G232V (c.746G>T). We showed that the G232V protein sequestrates some of the wild-type protein into the cells and prevents it from reaching the membrane where it plays its physiological role.
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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.