title: Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern.
abstract: Endothelin-1 is a peptidic substrate in vitro of lysosomal protective protein/cathepsin A (PPCA) with serine carboxypeptidase activity. Endothelin-1-specific immunoreactivity has been demonstrated to be markedly increased and distributed abnormally in the neurons and glial cells within autopsied brain regions, including the cerebellum, hippocampal formation, and spinal cord, of patients affected with galactosialidosis, a human PPCA deficiency. The genetic defect of the endothelin-1 degrading activity of PPCA is suggested to cause some of the neurological abnormalities of this disease.
authors.affiliation: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Itoh
authors.forename: K
authors.initials: K
authors.lastname: Oyanagi
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Hashizume
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000244:Adenosine Diphosphate / Q000031:analogs & derivatives* / Q000032:analysis; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D019332:Endothelin-1 / Q000032:analysis*; D006801:Humans; D007150:Immunohistochemistry; D016464:Lysosomal Storage Diseases / Q000378:metabolism*; D008297:Male; D001616:beta-Galactosidase / Q000172:deficiency*
chemical_list: D019332:Endothelin-1; D000244:Adenosine Diphosphate; C064434:5'-deoxy-5'-phosphonomethyladenosine phosphate; D001616:beta-Galactosidase