-
Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis.
Department of Medical Chemistry, University of Helsinki, Finland.
We have isolated storage cytosomes from brain tissue of patients with infantile neuronal ceroid-lipofuscinosis. The purified storage bodies were subjected to compositional analysis which revealed a high content of proteins, accounting for 43% of dry weight. Saposins A and D, also known as sphingolipid activator proteins (SAPs), were shown to constitute a major portion of the accumulated protein using gel electrophoresis and sequence analysis. This is the first time that saposins have been found to be stored in any form of neuronal ceroid-lipofuscinosis.
PMID: 8370464 [PubMed - indexed for MEDLINE]
-
Cited by 10 PubMed Central articles
-
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE, Pearce DA.
Curr Genomics. 2008 Apr; 9(2):115-36.
[Curr Genomics. 2008]
-
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.
Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN.
Neurobiol Dis. 2008 Feb; 29(2):306-15. Epub 2007 Sep 29.
[Neurobiol Dis. 2008]
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, et al.
Proc Natl Acad Sci U S A. 2006 Sep 12; 103(37):13854-9. Epub 2006 Sep 1.
[Proc Natl Acad Sci U S A. 2006]
- » See all...