Article
Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (Alpl-Deficiency)
2025-03-07
Abstract excerpt
Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by pathogenic var-iants in ALPL, coding for tissue non-specific alkaline phosphatase. HPP patients suffer from impaired bone mineralization and in severe cases from vitamin B6-responsive sei-zures. To study HPP we generated alpl-/- zebrafish line using CRISPR/Cas9 gene-editing technology. At 5 days post fertilization (dpf) no alpl mRNA and 89% lowe...
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Identifiers and source
- Literature Corpus work
- ab6232ab-6040-5d9b-a34a-8150b38af33c
- DOI
- 10.20944/preprints202503.0480.v1