Neuronal ceroid lipofuscinoses (CLNs) are a group of neurodegenerative disorders characterized by seizures, vision loss, and dementia (see links to subtypes below). They are associated with the accumulation of lipofuscin storage materials within cells, often in late endosome/lysosomal compartments. Fly stocks in the Bloomington collection that can be used to study Neuronal ceroid lipofuscinosis are listed here.
| CLN subtypes with causative genes identified (from OMIM) | |||
|---|---|---|---|
| CLN subtype | Human gene | Human protein | Fly gene |
| CLN1 | PPT1 | Palmitoyl-protein thioesterase (PPT1) | Palmitoyl-protein thioesterase (Ppt1) |
| CLN2 | TPP1 | TPP1 (tripeptidyl peptidase 1) | |
| CLN3 | CLN3 | CLN3/Battenin | cln3 |
| CLN5 | CLN5 | CLN5 | |
| CLN6 | CLN6 | CLN6 | |
| CLN8 | CLN8 | CLN8 | |
| CLN10 | CTSD | cathepsin D | cathD |