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PubMed:9694901 JSONTXT

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GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 112-115 Glycan_Motif denotes GM2 https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G79389NT|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G61168WC
T3 172-175 Glycan_Motif denotes GM2 https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G79389NT|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G61168WC
T5 344-347 Glycan_Motif denotes GM2 https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G79389NT|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G61168WC
T7 481-484 Glycan_Motif denotes GM2 https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G79389NT|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G61168WC

sentences

Id Subject Object Predicate Lexical cue
T1 0-167 Sentence denotes A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
T2 168-421 Sentence denotes The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A.
T3 422-658 Sentence denotes Although the active site associated with the hydrolysis of GM2 ganglioside, as well as part of the binding site for the ganglioside-activator complex, is associated with the alpha-subunit, elements of the beta-subunit are also involved.
T4 659-788 Sentence denotes Missense mutations in these genes normally result in the mutant protein being retained in the endoplasmic reticulum and degraded.
T5 789-922 Sentence denotes The mutations associated with the B1-variant of Tay-Sachs are rare exceptions that directly affect residues in the alpha-active site.
T6 923-1051 Sentence denotes We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.
T7 1052-1180 Sentence denotes Cells from these patients had higher than expected levels of mature beta-protein and residual Hex A activity, approximately 20%.
T8 1181-1301 Sentence denotes We now identify these patients' second mutant allele as a C1510T transition encoding a beta-Pro504 --> Ser substitution.
T9 1302-1743 Sentence denotes Biochemical characterization of Hex A from both patient cells and cotransfected CHO cells demonstrated that this substitution (a) decreases the level of heterodimer transport out of the endoplasmic reticulum by approximately 45%, (b) lowers its heat stability, (c) does not affect its Km for neutral or charged artificial substrates, and (d) lowers the ratio of units of ganglioside/units of artificial substrate hydrolyzed by a factor of 3.
T10 1744-1902 Sentence denotes We concluded that the beta-Pro504 --> Ser mutation directly affects the ability of Hex A to hydrolyze its natural substrate but not its artificial substrates.
T11 1903-2044 Sentence denotes The effect of the mutation on ganglioside hydrolysis, combined with its effect on intracellular transport, produces chronic Sandhoff disease.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 112-115 https://glytoucan.org/Structures/Glycans/G61168WC denotes GM2
T2 112-115 https://glytoucan.org/Structures/Glycans/G79389NT denotes GM2
T3 172-175 https://glytoucan.org/Structures/Glycans/G61168WC denotes GM2
T4 172-175 https://glytoucan.org/Structures/Glycans/G79389NT denotes GM2
T5 344-347 https://glytoucan.org/Structures/Glycans/G61168WC denotes GM2
T6 344-347 https://glytoucan.org/Structures/Glycans/G79389NT denotes GM2
T7 481-484 https://glytoucan.org/Structures/Glycans/G61168WC denotes GM2
T8 481-484 https://glytoucan.org/Structures/Glycans/G79389NT denotes GM2

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1030-1034 gene:3074 denotes HEXB
T1 976-992 disease:C0036161 denotes Sandhoff disease
R1 T0 T1 associated_with HEXB,Sandhoff disease

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
9694901-0#2#16#geners121907985 2-16 geners121907985 denotes Pro504 --> Ser
9694901-0#150#166#diseaseC0036161 150-166 diseaseC0036161 denotes Sandhoff disease
2#16#geners121907985150#166#diseaseC0036161 9694901-0#2#16#geners121907985 9694901-0#150#166#diseaseC0036161 associated_with Pro504 --> Ser,Sandhoff disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9694901-0#53#72#gene10724 53-72 gene10724 denotes beta-hexosaminidase
9694901-0#150#166#diseaseC0036161 150-166 diseaseC0036161 denotes Sandhoff disease
9694901-1#138#157#gene10724 306-325 gene10724 denotes beta-hexosaminidase
9694901-1#4#22#diseaseC0268274 172-190 diseaseC0268274 denotes GM2 gangliosidoses
9694901-1#199#209#diseaseC0268275 367-377 diseaseC0268275 denotes AB variant
9694901-5#107#111#gene3074 1030-1034 gene3074 denotes HEXB
9694901-5#53#69#diseaseC0036161 976-992 diseaseC0036161 denotes Sandhoff disease
53#72#gene10724150#166#diseaseC0036161 9694901-0#53#72#gene10724 9694901-0#150#166#diseaseC0036161 associated_with beta-hexosaminidase,Sandhoff disease
138#157#gene107244#22#diseaseC0268274 9694901-1#138#157#gene10724 9694901-1#4#22#diseaseC0268274 associated_with beta-hexosaminidase,GM2 gangliosidoses
138#157#gene10724199#209#diseaseC0268275 9694901-1#138#157#gene10724 9694901-1#199#209#diseaseC0268275 associated_with beta-hexosaminidase,AB variant
107#111#gene307453#69#diseaseC0036161 9694901-5#107#111#gene3074 9694901-5#53#69#diseaseC0036161 associated_with HEXB,Sandhoff disease

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T1 112-115 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T2 172-175 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T3 344-347 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T4 481-484 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 150-166 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T2 976-992 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006
T3 2027-2043 Disease denotes Sandhoff disease http://purl.obolibrary.org/obo/MONDO_0010006

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T1 112-115 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T2 172-175 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T3 344-347 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT
T4 481-484 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 765-774 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T2 1500-1509 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T3 1985-1998 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T1 150-166 Disease denotes Sandhoff disease MONDO:0010006
T2 976-992 Disease denotes Sandhoff disease MONDO:0010006
T3 2027-2043 Disease denotes Sandhoff disease MONDO:0010006

GlyCosmos15-Taxon

Id Subject Object Predicate Lexical cue db_id
T1 1069-1077 Organism denotes patients 9606
T2 1203-1211 Organism denotes patients 9606
T3 1350-1357 Organism denotes patient 9606

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T1 0-167 Sentence denotes A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
T2 168-658 Sentence denotes The GM2 gangliosidoses are caused by mutations in the genes encoding the alpha- (Tay-Sachs) or beta- (Sandhoff) subunits of heterodimeric beta-hexosaminidase A (Hex A), or the GM2 activator protein (AB variant), a substrate-specific co-factor for Hex A. Although the active site associated with the hydrolysis of GM2 ganglioside, as well as part of the binding site for the ganglioside-activator complex, is associated with the alpha-subunit, elements of the beta-subunit are also involved.
T3 659-788 Sentence denotes Missense mutations in these genes normally result in the mutant protein being retained in the endoplasmic reticulum and degraded.
T4 789-922 Sentence denotes The mutations associated with the B1-variant of Tay-Sachs are rare exceptions that directly affect residues in the alpha-active site.
T5 923-1051 Sentence denotes We have previously reported two sisters with chronic Sandhoff disease who were heterozygous for the common HEXB deletion allele.
T6 1052-1180 Sentence denotes Cells from these patients had higher than expected levels of mature beta-protein and residual Hex A activity, approximately 20%.
T7 1181-1301 Sentence denotes We now identify these patients' second mutant allele as a C1510T transition encoding a beta-Pro504 --> Ser substitution.
T8 1302-1743 Sentence denotes Biochemical characterization of Hex A from both patient cells and cotransfected CHO cells demonstrated that this substitution (a) decreases the level of heterodimer transport out of the endoplasmic reticulum by approximately 45%, (b) lowers its heat stability, (c) does not affect its Km for neutral or charged artificial substrates, and (d) lowers the ratio of units of ganglioside/units of artificial substrate hydrolyzed by a factor of 3.
T9 1744-1902 Sentence denotes We concluded that the beta-Pro504 --> Ser mutation directly affects the ability of Hex A to hydrolyze its natural substrate but not its artificial substrates.
T10 1903-2044 Sentence denotes The effect of the mutation on ganglioside hydrolysis, combined with its effect on intracellular transport, produces chronic Sandhoff disease.

GlyCosmos15-FMA

Id Subject Object Predicate Lexical cue db_id
T1 753-774 Body_part denotes endoplasmic reticulum FMA:63842
T2 1488-1509 Body_part denotes endoplasmic reticulum FMA:63842

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1350-1357 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 765-774 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T2 1500-1509 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T3 1985-1998 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622