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PubMed:8106452 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
8106452_0 1083-1095 ProteinMutation denotes Tyr456-->Ser rs121907982
8106452_1 1167-1179 ProteinMutation denotes Tyr456-->Ser rs121907982
8106452_2 2216-2228 ProteinMutation denotes Ile207-->Val rs10805890
8106452_3 2331-2343 ProteinMutation denotes Ile207-->Val rs10805890
8106452_4 2401-2413 ProteinMutation denotes Tyr456-->Ser rs121907982
8106452_5 2511-2523 ProteinMutation denotes Ile207-->Val rs10805890

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-214 Sentence denotes Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
TextSentencer_T2 215-486 Sentence denotes Deficiency of the lysosomal enzyme beta-hexosaminidase B (beta-Hex B) (a homodimer, beta beta), caused by a defect in the HEX B gene encoding the beta-chain, is usually accompanied by an absence of beta-Hex A (a heterodimer, alpha beta), thereby causing Sandhoff disease.
TextSentencer_T3 487-651 Sentence denotes However, we have earlier demonstrated the presence of partial beta-Hex A (30-50% of normal) even in the absence of beta-Hex B in an adult with motor neuron disease.
TextSentencer_T4 652-793 Sentence denotes The patient is a compound heterozygote with normal beta-chain message and one HEX B point mutation originating from each asymptomatic parent.
TextSentencer_T5 794-951 Sentence denotes Since the non-expression of beta-Hex B was post-transcriptional, we transfected COS-7 cells to understand the effect of each mutation on beta-Hex B activity.
TextSentencer_T6 952-1126 Sentence denotes Transfection of the A1367-->C mutant (maternal allele) construct produced no overexpressed beta-Hex B, indicating that the encoded Tyr456-->Ser beta-chain was non-functional.
TextSentencer_T7 1127-1295 Sentence denotes Chou-Fasman analysis predicted that the Tyr456-->Ser mutation would cause a dramatic change in beta-chain folding (which often inhibits formation of functional dimers).
TextSentencer_T8 1296-1448 Sentence denotes This explains the complete lack of beta-Hex B in the transfectants and a partial deficiency of beta-Hex A and B (50% of normal) in the patient's mother.
TextSentencer_T9 1449-1826 Sentence denotes Since immunoprecipitated beta-Hex A (alpha beta) protein from patient fibroblasts showed the presence of mature beta-chains even though there was no beta-Hex B (beta beta) protein, the mutant beta-chain inherited from the father (who has normal beta-Hex A and B) must undergo preferential association with the normal alpha-chains in the patient, thus producing only beta-Hex A.
TextSentencer_T10 1827-2151 Sentence denotes Transient expression of the A619-->G mutant (paternal allele) construct produced beta-Hex B activity comparable to the wild type (approximately 10-20-fold over mock-transfected) whereas stable expression produced normal message but no beta-Hex B activity (wild type beta-Hex B expression: only 2-fold over mock-transfected).
TextSentencer_T11 2152-2355 Sentence denotes The lack of increased beta-Hex B after stable expression of the Ile207-->Val beta-chains at a lower copy number indicates the absence of self-association at low concentrations of Ile207-->Val beta-chain.
TextSentencer_T12 2356-2672 Sentence denotes In the patient who also has a non-functional Tyr456-->Ser allele, the effective concentration of beta-chains is reduced to 50% of normal and the remaining Ile207-->Val beta-chains fail to self-associate but can still dimerize with the abundant normal alpha-chains thus producing partial beta-Hex A and no beta-Hex B.
T1 0-214 Sentence denotes Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
T2 215-486 Sentence denotes Deficiency of the lysosomal enzyme beta-hexosaminidase B (beta-Hex B) (a homodimer, beta beta), caused by a defect in the HEX B gene encoding the beta-chain, is usually accompanied by an absence of beta-Hex A (a heterodimer, alpha beta), thereby causing Sandhoff disease.
T3 487-651 Sentence denotes However, we have earlier demonstrated the presence of partial beta-Hex A (30-50% of normal) even in the absence of beta-Hex B in an adult with motor neuron disease.
T4 652-793 Sentence denotes The patient is a compound heterozygote with normal beta-chain message and one HEX B point mutation originating from each asymptomatic parent.
T5 794-951 Sentence denotes Since the non-expression of beta-Hex B was post-transcriptional, we transfected COS-7 cells to understand the effect of each mutation on beta-Hex B activity.
T6 952-1126 Sentence denotes Transfection of the A1367-->C mutant (maternal allele) construct produced no overexpressed beta-Hex B, indicating that the encoded Tyr456-->Ser beta-chain was non-functional.
T7 1127-1295 Sentence denotes Chou-Fasman analysis predicted that the Tyr456-->Ser mutation would cause a dramatic change in beta-chain folding (which often inhibits formation of functional dimers).
T8 1296-1448 Sentence denotes This explains the complete lack of beta-Hex B in the transfectants and a partial deficiency of beta-Hex A and B (50% of normal) in the patient's mother.
T9 1449-1826 Sentence denotes Since immunoprecipitated beta-Hex A (alpha beta) protein from patient fibroblasts showed the presence of mature beta-chains even though there was no beta-Hex B (beta beta) protein, the mutant beta-chain inherited from the father (who has normal beta-Hex A and B) must undergo preferential association with the normal alpha-chains in the patient, thus producing only beta-Hex A.
T10 1827-2151 Sentence denotes Transient expression of the A619-->G mutant (paternal allele) construct produced beta-Hex B activity comparable to the wild type (approximately 10-20-fold over mock-transfected) whereas stable expression produced normal message but no beta-Hex B activity (wild type beta-Hex B expression: only 2-fold over mock-transfected).
T11 2152-2355 Sentence denotes The lack of increased beta-Hex B after stable expression of the Ile207-->Val beta-chains at a lower copy number indicates the absence of self-association at low concentrations of Ile207-->Val beta-chain.
T12 2356-2672 Sentence denotes In the patient who also has a non-functional Tyr456-->Ser allele, the effective concentration of beta-chains is reduced to 50% of normal and the remaining Ile207-->Val beta-chains fail to self-associate but can still dimerize with the abundant normal alpha-chains thus producing partial beta-Hex A and no beta-Hex B.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 87-90 gene:10724 denotes Hex
T1 185-205 disease:C0085084 denotes motor neuron disease
T2 34-37 gene:10724 denotes Hex
T3 185-205 disease:C0085084 denotes motor neuron disease
T4 13-32 gene:10724 denotes beta-hexosaminidase
T5 185-205 disease:C0085084 denotes motor neuron disease
T6 607-610 gene:10724 denotes Hex
T7 630-650 disease:C0085084 denotes motor neuron disease
T8 554-557 gene:10724 denotes Hex
T9 630-650 disease:C0085084 denotes motor neuron disease
R1 T0 T1 associated_with Hex,motor neuron disease
R2 T2 T3 associated_with Hex,motor neuron disease
R3 T4 T5 associated_with beta-hexosaminidase,motor neuron disease
R4 T6 T7 associated_with Hex,motor neuron disease
R5 T8 T9 associated_with Hex,motor neuron disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8106452-0#13#32#gene10724 13-32 gene10724 denotes beta-hexosaminidase
8106452-0#34#37#gene10724 34-37 gene10724 denotes Hex
8106452-0#87#90#gene10724 87-90 gene10724 denotes Hex
8106452-0#185#205#diseaseC0085084 185-205 diseaseC0085084 denotes motor neuron disease
8106452-1#35#54#gene10724 250-269 gene10724 denotes beta-hexosaminidase
8106452-1#203#206#gene10724 418-421 gene10724 denotes Hex
8106452-1#254#270#diseaseC0036161 469-485 diseaseC0036161 denotes Sandhoff disease
13#32#gene10724185#205#diseaseC0085084 8106452-0#13#32#gene10724 8106452-0#185#205#diseaseC0085084 associated_with beta-hexosaminidase,motor neuron disease
34#37#gene10724185#205#diseaseC0085084 8106452-0#34#37#gene10724 8106452-0#185#205#diseaseC0085084 associated_with Hex,motor neuron disease
87#90#gene10724185#205#diseaseC0085084 8106452-0#87#90#gene10724 8106452-0#185#205#diseaseC0085084 associated_with Hex,motor neuron disease
35#54#gene10724254#270#diseaseC0036161 8106452-1#35#54#gene10724 8106452-1#254#270#diseaseC0036161 associated_with beta-hexosaminidase,Sandhoff disease
203#206#gene10724254#270#diseaseC0036161 8106452-1#203#206#gene10724 8106452-1#254#270#diseaseC0036161 associated_with Hex,Sandhoff disease

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 469-485 ORDO:796 denotes Sandhoff disease

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 191-197 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuron
PD-UBERON-AE-B_T2 636-642 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuron

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 185-205 Disease denotes motor neuron disease http://purl.obolibrary.org/obo/MONDO_0020128
T2 469-485 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T3 630-650 Disease denotes motor neuron disease http://purl.obolibrary.org/obo/MONDO_0020128

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 206-213 OrganismTaxon denotes patient 9606
T2 656-663 OrganismTaxon denotes patient 9606
T3 1511-1518 OrganismTaxon denotes patient 9606
T4 1786-1793 OrganismTaxon denotes patient 9606
T5 2363-2370 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 185-197 Body_part denotes motor neuron http://purl.obolibrary.org/obo/CL_0000100
T2 630-642 Body_part denotes motor neuron http://purl.obolibrary.org/obo/CL_0000100
T3 1519-1530 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 185-197 Cell denotes motor neuron http://purl.obolibrary.org/obo/CL:0000100
T2 191-197 Cell denotes neuron http://purl.obolibrary.org/obo/CL:0000540
T3 630-642 Cell denotes motor neuron http://purl.obolibrary.org/obo/CL:0000100
T4 636-642 Cell denotes neuron http://purl.obolibrary.org/obo/CL:0000540
T5 1519-1530 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057