Fabry disease: cellular expression of enzyme deficiency in nerve xenografts.
Human sural nerve fascicles from a patient with Fabry disease were transplanted into nude-mouse sciatic nerves to determine whether transplanted perineurial cells and smooth-muscle cells of an epineurial artery would express the genetic abnormality of the disease. Four months after grafting, both perineurial cells and smooth-muscle cells contained the cytoplasmic lamellated inclusion bodies characteristic of Fabry disease. This provided evidence of human perineurial cells and smooth-muscle cells in the regenerated xenografts.
D000328:Adult; D000818:Animals; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D000795:Fabry Disease / Q000201:enzymology* / Q000473:pathology; D002517:Galactosylgalactosylglucosylceramidase / Q000378:metabolism; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D051379:Mice; D008819:Mice, Nude; D009130:Muscle, Smooth / Q000473:pathology / Q000637:transplantation; D012584:Sciatic Nerve / Q000473:pathology; D013127:Spinal Nerves / Q000201:enzymology*; D013497:Sural Nerve / Q000201:enzymology* / Q000473:pathology / Q000637:transplantation; D014183:Transplantation, Heterologous; D000519:alpha-Galactosidase / Q000378:metabolism
D000519:alpha-Galactosidase; D002517:Galactosylgalactosylglucosylceramidase