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PubMed:14707127 JSON TXT

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GlyCosmos6-Glycan-Motif-Image

Id	Subject	Object	Predicate	Lexical cue	image
T1	17-36	Glycan_Motif	denotes	N-acetylglucosamine	https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T2	574-585	Glycan_Motif	denotes	sialic acid	https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY
T3	780-791	Glycan_Motif	denotes	sialic acid	https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY

sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-141	Sentence	denotes	Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
T2	142-329	Sentence	denotes	Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood.
T3	330-586	Sentence	denotes	In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.
T4	587-732	Sentence	denotes	In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system.
T5	733-882	Sentence	denotes	Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60-75% of control.
T6	883-1136	Sentence	denotes	The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue.
T7	1137-1308	Sentence	denotes	The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

GlyCosmos6-Glycan-Motif-Structure

Id	Subject	Object	Predicate	Lexical cue
T1	17-36	https://glytoucan.org/Structures/Glycans/G64581RP	denotes	N-acetylglucosamine
T2	574-585	https://glytoucan.org/Structures/Glycans/G81533KY	denotes	sialic acid
T3	780-791	https://glytoucan.org/Structures/Glycans/G81533KY	denotes	sialic acid

Glycosmos6-MAT

Id	Subject	Object	Predicate	Lexical cue
T1	205-211	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscle
T2	302-309	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscles
T3	795-801	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscle
T4	1011-1018	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscles
T5	1122-1128	http://purl.obolibrary.org/obo/MAT_0000025	denotes	muscle

PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	149-157	HP_0003198	denotes	myopathy
T2	163-178	HP_0003805	denotes	rimmed vacuoles
T3	185-204	HP_0000007	denotes	autosomal recessive
T4	364-372	HP_0003198	denotes	myopathy
T5	378-393	HP_0003805	denotes	rimmed vacuoles
T6	985-1007	HP_0012345	denotes	abnormal glycosylation
T7	1064-1083	HP_0003736	denotes	autophagic vacuoles
T8	1085-1092	HP_0011034	denotes	amyloid

NGLY1-deficiency

Id	Subject	Object	Predicate	Lexical cue
PD-NGLY1-deficiency-B_T1	17-36	chem:24139	denotes	N-acetylglucosamine
PD-NGLY1-deficiency-B_T2	479-485	chem:24139	denotes	GlcNAc

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
14707127-0#13#75#gene10020	13-75	gene10020	denotes	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
14707127-0#104#140#diseaseC1853926	104-140	diseaseC1853926	denotes	distal myopathy with rimmed vacuoles
13#75#gene10020104#140#diseaseC1853926	14707127-0#13#75#gene10020	14707127-0#104#140#diseaseC1853926	associated_with	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,distal myopathy with rimmed vacuoles

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	13-75	gene:10020	denotes	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
T1	104-140	disease:C1853926	denotes	distal myopathy with rimmed vacuoles
R1	T0	T1	associated_with	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,distal myopathy with rimmed vacuoles

Anatomy-MAT

Id	Subject	Object	Predicate	Lexical cue	mat_id
T1	205-211	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025
T2	302-309	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/MAT_0000025
T3	795-801	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025
T4	1011-1018	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/MAT_0000025
T5	1122-1128	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025

HP-phenotype

Id	Subject	Object	Predicate	Lexical cue	hp_id
T1	111-119	Phenotype	denotes	myopathy	HP:0003198
T2	125-140	Phenotype	denotes	rimmed vacuoles	HP:0003805
T3	149-157	Phenotype	denotes	myopathy	HP:0003198
T4	163-178	Phenotype	denotes	rimmed vacuoles	HP:0003805
T5	364-372	Phenotype	denotes	myopathy	HP:0003198
T6	378-393	Phenotype	denotes	rimmed vacuoles	HP:0003805
T7	985-1007	Phenotype	denotes	abnormal glycosylation	HP:0012345
T8	1064-1083	Phenotype	denotes	autophagic vacuoles	HP:0003736

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	104-140	Disease	denotes	distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T3	142-178	Disease	denotes	Distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T5	357-393	Disease	denotes	distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T7	834-838	Disease	denotes	DMRV	http://purl.obolibrary.org/obo/MONDO_0011603\|http://purl.obolibrary.org/obo/MONDO_0014945
T9	1085-1092	Disease	denotes	amyloid	http://purl.obolibrary.org/obo/MONDO_0019065

Glycan-GlyCosmos

Id	Subject	Object	Predicate	Lexical cue	image
T1	1164-1169	Glycan	denotes	NeuAc	https://api.glycosmos.org/wurcs2image/latest/png/binary/G76685HR

GlyCosmos15-HP

Id	Subject	Object	Predicate	Lexical cue	hp_id
T1	111-119	Phenotype	denotes	myopathy	HP:0003198
T2	125-140	Phenotype	denotes	rimmed vacuoles	HP:0003805
T3	149-157	Phenotype	denotes	myopathy	HP:0003198
T4	163-178	Phenotype	denotes	rimmed vacuoles	HP:0003805
T5	364-372	Phenotype	denotes	myopathy	HP:0003198
T6	378-393	Phenotype	denotes	rimmed vacuoles	HP:0003805
T7	985-1007	Phenotype	denotes	abnormal glycosylation	HP:0012345
T8	1064-1083	Phenotype	denotes	autophagic vacuoles	HP:0003736

GlyCosmos15-MONDO

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	104-140	Disease	denotes	distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T3	142-178	Disease	denotes	Distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T5	357-393	Disease	denotes	distal myopathy with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0007827\|http://purl.obolibrary.org/obo/MONDO_0011603
T7	834-838	Disease	denotes	DMRV	http://purl.obolibrary.org/obo/MONDO_0011603\|http://purl.obolibrary.org/obo/MONDO_0014945
T9	1085-1092	Disease	denotes	amyloid	http://purl.obolibrary.org/obo/MONDO_0019065

GlyCosmos15-NCBITAXON

Id	Subject	Object	Predicate	Lexical cue	db_id
T1	344-351	OrganismTaxon	denotes	patient	9606
T2	1114-1121	OrganismTaxon	denotes	patient	9606

GlyCosmos15-CL

Id	Subject	Object	Predicate	Lexical cue	cl_id
T1	806-828	Cell	denotes	primary cultured cells	http://purl.obolibrary.org/obo/CL:0000001
T2	1173-1195	Cell	denotes	primary cultured cells	http://purl.obolibrary.org/obo/CL:0000001

GlyCosmos15-UBERON

Id	Subject	Object	Predicate	Lexical cue	uberon_id
T1	205-211	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/UBERON_0001630\|http://purl.obolibrary.org/obo/UBERON_0005090
T3	257-274	Body_part	denotes	tibialis anterior	http://purl.obolibrary.org/obo/UBERON_0001385
T4	291-301	Body_part	denotes	quadriceps	http://purl.obolibrary.org/obo/UBERON_0001377
T5	302-309	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/UBERON_0001015
T6	795-801	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/UBERON_0001630\|http://purl.obolibrary.org/obo/UBERON_0005090
T8	1011-1018	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/UBERON_0001015
T9	1122-1135	Body_part	denotes	muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385

GlyCosmos15-MAT

Id	Subject	Object	Predicate	Lexical cue	mat_id
T1	205-211	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025
T2	302-309	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/MAT_0000025
T3	795-801	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025
T4	1011-1018	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/MAT_0000025
T5	1122-1128	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/MAT_0000025

sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-141	Sentence	denotes	Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
T2	142-329	Sentence	denotes	Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood.
T3	330-586	Sentence	denotes	In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.
T4	587-732	Sentence	denotes	In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system.
T5	733-882	Sentence	denotes	Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60-75% of control.
T6	883-1136	Sentence	denotes	The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue.
T7	1137-1308	Sentence	denotes	The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

GlyCosmos15-Sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-141	Sentence	denotes	Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
T2	142-329	Sentence	denotes	Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood.
T3	330-586	Sentence	denotes	In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.
T4	587-732	Sentence	denotes	In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system.
T5	733-882	Sentence	denotes	Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60-75% of control.
T6	883-1136	Sentence	denotes	The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue.
T7	1137-1308	Sentence	denotes	The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

GlyCosmos15-Glycan

Id	Subject	Object	Predicate	Lexical cue	image
T1	1164-1169	Glycan	denotes	NeuAc	https://api.glycosmos.org/wurcs2image/latest/png/binary/G76685HR

Lectin-Jamboree-Sentence

Id	Subject	Object	Predicate	Lexical cue
T1	0-141	Sentence	denotes	Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
T2	142-329	Sentence	denotes	Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood.
T3	330-586	Sentence	denotes	In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.
T4	587-732	Sentence	denotes	In this study, we demonstrated the relationship between the genetic mutations and enzymatic activities using an in vitro expression assay system.
T5	733-882	Sentence	denotes	Furthermore, we also showed that the levels of sialic acid in muscle and primary cultured cells from DMRV patients were reduced to 60-75% of control.
T6	883-1136	Sentence	denotes	The reactivities to lectins were also variable in some myofibers, suggesting that hyposialylation and abnormal glycosylation in muscles may contribute to the focal accumulations of autophagic vacuoles, amyloid deposits, or both in patient muscle tissue.
T7	1137-1308	Sentence	denotes	The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.

NCBITAXON

Id	Subject	Object	Predicate	Lexical cue	db_id
T1	344-351	OrganismTaxon	denotes	patient	9606
T2	1114-1121	OrganismTaxon	denotes	patient	9606

Anatomy-UBERON

Id	Subject	Object	Predicate	Lexical cue	uberon_id
T1	205-211	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/UBERON_0001630\|http://purl.obolibrary.org/obo/UBERON_0005090
T3	257-274	Body_part	denotes	tibialis anterior	http://purl.obolibrary.org/obo/UBERON_0001385
T4	291-301	Body_part	denotes	quadriceps	http://purl.obolibrary.org/obo/UBERON_0001377
T5	302-309	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/UBERON_0001015
T6	795-801	Body_part	denotes	muscle	http://purl.obolibrary.org/obo/UBERON_0001630\|http://purl.obolibrary.org/obo/UBERON_0005090
T8	1011-1018	Body_part	denotes	muscles	http://purl.obolibrary.org/obo/UBERON_0001015
T9	1122-1135	Body_part	denotes	muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002385

CL-cell

Id	Subject	Object	Predicate	Lexical cue	cl_id
T1	806-828	Cell	denotes	primary cultured cells	http://purl.obolibrary.org/obo/CL:0000001
T2	1173-1195	Cell	denotes	primary cultured cells	http://purl.obolibrary.org/obo/CL:0000001