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Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abno...
Walker, Christopher P.; Pessoa, Andre L. S.; Figueiredo, Thalita; Rafferty, Megan; Melo, Uirá S.; Nóbrega, Paulo R.; Murphy, Nicholas; Kok, FernandoBackground: Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme inositol monophosphatase 1 (IMPase), has recently been associated with severe intellectual disability (ID) in a geographically isolated consanguineous family in Northeastern Brazil (Figueredo...
Date: 2019
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Origin: Oasisbr