Low molecular weight storage material in infantile ceroid lipofuscinosis (CLN1)

Neuropediatrics

Volumn 28, Issue 1, 1997, Pages 31-32

  Dawson, G ^a   Cho, Seongeun ^a   Siakotos, A N ^a   Kilkus, J ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Fibroblasts CLN1; Isotope labelling; Lymphoblasts; Palmitoylcysteine

Indexed keywords

CYSTEINE; LIPID; PALMITIC ACID; PALMITOYL PROTEIN THIOESTERASE; PALMITOYLCYSTEINE; SILICON DIOXIDE; SULFUR 35; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FIBROBLAST; GENETIC DISORDER; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; LYSOSOME STORAGE DISEASE; MOLECULAR WEIGHT; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL;

EID: 0030874171     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973662     Document Type: Article

References (4)

1. Dawson, G , R. Matalon, A. Dorfman: Glycosphingolipids in cultured human skin fibroblasts. J. Biol. Chem. 244 (1972) 5944-5950
2. Lenn, N. J., G. Dawson: On the significance of curvilinear bodies in late infantile lipidosis. Am. J. Ment. Def. 77 (1973) 597-606
3. Tyynela, J., D. N. Palmer, M. Baumann, M. Haltia: Storage of saposins A and D in infantile neuronal ceroid lipofuscinosis. FEBS lett. 330 (1993) 8-12
4. Vesa, J., et al: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376 (1995) 584-587