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PubMed:20052765 JSONTXT

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PubMed_ArguminSci

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.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1415-1419 gene:1203 denotes CLN5
T1 1550-1556 disease:C1850442 denotes vLINCL
R1 T0 T1 associated_with CLN5,vLINCL

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 394-408 HP_0000572 denotes loss of vision
T2 420-428 HP_0001250 denotes seizures
T3 434-454 HP_0001268 denotes mental deterioration

Allie

Id Subject Object Predicate Lexical cue
SS1_20052765_1_0 130-160 expanded denotes Neuronal ceroid lipofuscinoses
SS2_20052765_1_0 162-166 abbr denotes NCLs
AE1_20052765_1_0 SS1_20052765_1_0 SS2_20052765_1_0 abbreviatedTo Neuronal ceroid lipofuscinoses,NCLs

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20052765-7#50#54#gene1203 1020-1024 gene1203 denotes CLN5
20052765-7#95#101#diseaseC1850442 1065-1071 diseaseC1850442 denotes vLINCL
20052765-7#95#101#diseaseC1866282 1065-1071 diseaseC1866282 denotes vLINCL
50#54#gene120395#101#diseaseC1850442 20052765-7#50#54#gene1203 20052765-7#95#101#diseaseC1850442 associated_with CLN5,vLINCL
50#54#gene120395#101#diseaseC1866282 20052765-7#50#54#gene1203 20052765-7#95#101#diseaseC1866282 associated_with CLN5,vLINCL