Neuronal ceroid lipofuscinosis: a common pathway?
| Autor: | Eiki Kominami, Rose-Mary Boustany, Christine Wang, Adam Zucker, Talal Mousallem, Dixie-Ann Persaud-Sawin |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Programmed cell death
Time Factors Endosome Apoptosis Biology Transfection Models Biological Cell Line Mice Neuronal Ceroid-Lipofuscinoses Chlorocebus aethiops medicine Animals Humans Immunoprecipitation Lipid raft Mice Knockout Membrane Glycoproteins Tripeptidyl-Peptidase 1 Cell growth medicine.disease Cell biology Mice Inbred C57BL CLN3 CLN8 Pediatrics Perinatology and Child Health Immunology COS Cells Neuronal ceroid lipofuscinosis Signal Transduction |
| Zdroj: | Pediatric research. 61(2) |
| ISSN: | 0031-3998 |
| Popis: | The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical variants (CLN1-CLN9), six have been genetically identified. Most variants manifest cell death and dysregulated sphingolipid metabolism, suggesting the proteins defective in these disorders may interact along one pathway. NCL patient-derived cell lines exhibit cell growth and apoptotic defects that reverse following transfection with the wild-type gene. The membrane-bound proteins CLN3, CLN6, and CLN8 complement each other, as do CLN1 and CLN2 proteins, with respect to growth and apoptosis. The CLN2 protein also corrects growth and apoptosis in CLN3-, CLN6-, and CLN8-deficient cell lines. Neither CLN1-deficient nor CLN2-deficient growth defects are corrected by CLN3, CLN6, and CLN8 proteins. CLN2, CLN3, CLN6, and CLN8 proteins co-immunoprecipitate and co-localize to early and/or recycling endosomes and lipid rafts. Additionally, CLN2p and CLN1p co-immunoprecipitate. The work presented supports interactions between NCL proteins occurring at multiple points along one pathway. |
| Databáze: | OpenAIRE |
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