Dhyanam Shukla, Brian M Gural, Edmund S Cauley, Namarata Battula, Shorbon Mowla, Brittany F Karas, Llion E Roberts, Luca Cavallo, Luka Turkalj, Sally A Moody, Laura E Swan, M Chiara Manzini
One hurdle in the development of zebrafish models of human disease is the presence of multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations in inositol polyphosphate 5-phosphatase K (INPP5K) lead to a syndrome characterized by variable presentation of intellectual disability, brain abnormalities, cataracts, muscle disease, and short stature. INPP5K is a phosphatase acting at position 5 of phosphoinositides to control their homeostasis and is involved in insulin signaling, cytoskeletal regulation, and protein trafficking...
May 15, 2023: Development Genes and Evolution