A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface.
Shi
Wen
W
Division of Molecular and Cellular Biology, Sunnybrook Health Sciences Centre, Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Filmus
Jorge
J
D000818:Animals; D002460:Cell Line; D002462:Cell Membrane / Q000235:genetics* / Q000378:metabolism; D017077:Culture Media, Conditioned; D016650:Fluorescein-5-isothiocyanate / Q000378:metabolism; D019085:Fluorescent Antibody Technique, Direct; D005456:Fluorescent Dyes / Q000378:metabolism; D017930:Genes, Reporter; D005822:Genetic Vectors; D053673:Glypicans / Q000235:genetics*; D053823:Hedgehog Proteins / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000166:cytology; D008156:Luciferases / Q000378:metabolism; D008297:Male; D051379:Mice; D041681:NIH 3T3 Cells; D017354:Point Mutation; D011509:Proteoglycans / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction; D013577:Syndrome; D013997:Time Factors; D014162:Transfection; D001616:beta-Galactosidase / Q000378:metabolism
D017077:Culture Media, Conditioned; D005456:Fluorescent Dyes; C105937:GPC3 protein, human; D053673:Glypicans; D053823:Hedgehog Proteins; D011509:Proteoglycans; C509239:SHH protein, human; D008156:Luciferases; D001616:beta-Galactosidase; D016650:Fluorescein-5-isothiocyanate