Ichthyosis comprises a group of heritable skin disorders of varying severity. Among these are Harlequin ichthyosis (HI), which is associated with ABCA12 mutations and is fatal soon after birth, and CEDNIK syndrome (involving cerebral dysgenesis, neuropathy, ichthyosis and keratoderma), which is associated with SNAP29 mutations. Abca1−/− mice have provided some clues about HI, but there is no model for CEDNIK. Li et al. use zebrafish to investigate the effects of disrupting abca12 or snap29 expression during development. Different lipid-transport pathways are impaired upon abca12 versus snap29 knockdown, but both cause epidermal defects similar to those seen in individuals with ichthyosis, providing new insight into the pathology of these disorders. Page 777
Investigating heritable skin disorders in zebrafish
Investigating heritable skin disorders in zebrafish. Dis Model Mech 1 November 2011; 4 (6): 709. doi:
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DMM Journal Meeting 2023: Infectious Diseases Through an Evolutionary Lens
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