Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
2010
Abstract
The international research team studied expression pattern of lysosomal membrane protein NCL7 in normal mouse. This protein is targeted to the lysosomal system.
Its function is presumed to be associated with transport processes. When mutated it leads to very serious neurological disorder called neuronal ceroid lipofuscinosis type 7 featured by extensive lysosomal storage of hydrophobic proteins.
The Prague participation was requested as we could provide comparative study of neuropathology in human cases.