PubMed_ArguminSci  

PubMed:20052765 JSONTXT 9 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 130-138 DRI_Background denotes Neuronal
T2 161-292 DRI_Background denotes (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes.
T3 293-455 DRI_Challenge denotes Mutations in the CLN5 gene result in the Finnish variant late infantile NCL characterized by gradual loss of vision, epileptic seizures, and mental deterioration.
T4 456-528 DRI_Approach denotes The CLN5 gene encodes a lysosomal glycoprotein of unidentified function.
T5 529-708 DRI_Approach denotes In this study, we have used both transient and stable expression systems for the characterization of CLN5, focusing on the localization, processing, and intracellular trafficking.
T6 709-819 DRI_Outcome denotes We show that CLN5 is proteolytically cleaved, and that the mature polypeptide is transported to the lysosomes.
T7 820-898 DRI_Outcome denotes Our data provide the first evidence that soluble CLN5 protein can also undergo
T8 940-969 DRI_Outcome denotes trafficking to the lysosomes.
T9 970-1112 DRI_Approach denotes We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
T10 1113-1207 DRI_Approach denotes All analyzed disease mutations disturb the lysosomal trafficking of the mutated CLN5 proteins.
T11 1208-1345 DRI_Background denotes The level of lysosomal targeting does not correlate, however, to disease onset, indicating that CLN5 may also function outside lysosomes.
T12 1346-1557 DRI_Outcome denotes This study furthers our understanding of the basic properties of the CLN5 protein, necessary for the characterization of the consequences of disease mutations and for the planning of future therapies for vLINCL.