PubMed:28740222
Annnotations
PubMed_ArguminSci
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-196 | DRI_Approach | denotes | Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, |
| T2 | 234-244 | DRI_Approach | denotes | (AD-ANCL). |
| T3 | 245-412 | DRI_Background | denotes | The current understanding of CSPα function exclusively at the synapse fails to explain the autophagy-lysosome pathway (ALP) dysfunction in cells from AD-ANCL patients. |
| T4 | 413-741 | DRI_Outcome | denotes | Here, we demonstrate unexpectedly that primary dermal fibroblasts from pre-symptomatic mutation carriers recapitulate in vitro features found in the brains of AD-ANCL patients including auto-fluorescent storage material (AFSM) accumulation, CSPα aggregates, increased levels of lysosomal proteins and lysosome enzyme activities. |
| T5 | 742-864 | DRI_Background | denotes | AFSM accumulation correlates with CSPα aggregation and both are susceptible to pharmacological modulation of ALP function. |
| T6 | 865-1038 | DRI_Outcome | denotes | In addition, we demonstrate that endogenous CSPα is present in the lysosome-enriched fractions and co-localizes with lysosome markers in soma, neurites and synaptic boutons. |
| T7 | 1039-1174 | DRI_Background | denotes | Overexpression of CSPα wild-type (WT) decreases lysotracker signal, secreted lysosomal enzymes and SNAP23-mediated lysosome exocytosis. |
| T8 | 1175-1314 | DRI_Background | denotes | CSPα WT, mutant and aggregated CSPα are degraded mainly by the ALP but this disease-causing mutation exhibits a faster rate of degradation. |
| T9 | 1315-1412 | DRI_Approach | denotes | Co-expression of both WT and mutant CSPα cause a block in the fusion of autophagosomes/lysosomes. |
| T10 | 1413-1624 | DRI_Outcome | denotes | Our data suggest that aggregation-dependent perturbation of ALP function is a relevant pathogenic mechanism for AD-ANCL and supports the use of AFSM or CSPα aggregation as biomarkers for drug screening purposes. |
Anatomy-MAT
| Id | Subject | Object | Predicate | Lexical cue | mat_id |
|---|---|---|---|---|---|
| T1 | 562-568 | Body_part | denotes | brains | http://purl.obolibrary.org/obo/MAT_0000098 |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 25-28 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T2 | 90-120 | Disease | denotes | neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0016295 |
| T3 | 162-165 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T4 | 197-233 | Disease | denotes | adult-neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0019260 |
| T5 | 238-242 | Disease | denotes | ANCL | http://purl.obolibrary.org/obo/MONDO_0019260 |
| T6 | 274-277 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T7 | 398-402 | Disease | denotes | ANCL | http://purl.obolibrary.org/obo/MONDO_0019260 |
| T8 | 575-579 | Disease | denotes | ANCL | http://purl.obolibrary.org/obo/MONDO_0019260 |
| T9 | 654-657 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T10 | 776-779 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T11 | 909-912 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T12 | 1057-1060 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T13 | 1175-1178 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T14 | 1206-1209 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T15 | 1351-1354 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
| T16 | 1528-1532 | Disease | denotes | ANCL | http://purl.obolibrary.org/obo/MONDO_0019260 |
| T17 | 1565-1568 | Disease | denotes | CSP | http://purl.obolibrary.org/obo/MONDO_0005078 |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 8-19 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
| T2 | 307-314 | Body_part | denotes | synapse | http://purl.obolibrary.org/obo/GO_0045202 |
| T3 | 346-354 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
| T4 | 467-478 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
| T5 | 714-722 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
| T6 | 932-940 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
| T7 | 982-990 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
| T8 | 1154-1162 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
| T9 | 1402-1411 | Body_part | denotes | lysosomes | http://purl.obolibrary.org/obo/GO_0005764 |
CL-cell
| Id | Subject | Object | Predicate | Lexical cue | cl_id |
|---|---|---|---|---|---|
| T1 | 8-19 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |
| T2 | 90-98 | Cell | denotes | neuronal | http://purl.obolibrary.org/obo/CL:0000540 |
| T3 | 203-211 | Cell | denotes | neuronal | http://purl.obolibrary.org/obo/CL:0000540 |
| T4 | 467-478 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |