Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1).
The identification of the genetic defect in CLN1 as a palmitoyl-protein thioesterase deficiency initiated a search for the lysosomal storage material. Pulse-chase labelling of fibroblasts and lymphoblastoid cell lines with [35S]cysteine revealed the presence of lipid [35S]cysteine material in CLN1 fibroblasts and not in controls, CLN2 or CLN3 patients or other patients with lipidosis. A single band comigrated with the acylcysteine standard and labelling with [3H]palmitate showed a band of material which eluted from the silicic acid column with the phospholipid fraction and which co-migrated with the lipid-[35S]cysteine band. The storage material is tentatively identified as palmitoylcysteine.
Dawson
G
G
Department of Pediatrics, University of Chicago, IL 60637, USA.
Cho
S
S
Siakotos
A N
AN
Kilkus
J
J
D000293:Adolescent; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D016213:Cyclins / Q000235:genetics*; D003545:Cysteine / Q000031:analogs & derivatives* / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010169:Palmitic Acids / Q000378:metabolism*; D010170:Palmitoyl-CoA Hydrolase / Q000172:deficiency / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1
D016213:Cyclins; D010169:Palmitic Acids; D000091346:Tripeptidyl-Peptidase 1; D010170:Palmitoyl-CoA Hydrolase; C000717267:TPP1 protein, human; D003545:Cysteine