PubMed:19025767 JSON TXT

Annnotations TAB JSON ListView MergeView

PubTator4TogoVar

{"project":"PubTator4TogoVar","denotations":[{"id":"19025767_0","span":{"begin":768,"end":774},"obj":"ProteinMutation"}],"attributes":[{"id":"19025767_0_ProteinMutation","pred":"proteinmutation","subj":"19025767_0","obj":"rs34637584"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}

c_corpus

PMID_GLOBAL

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":74,"end":93},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":95,"end":114},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":116,"end":118},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":157,"end":174},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":276,"end":280},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":365,"end":367},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":419,"end":437},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":719,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":839,"end":841},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":915,"end":917},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0015404"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0005180"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0005180"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0008199"},{"id":"A5","pred":"mondo_id","subj":"T4","obj":"0015873"},{"id":"A6","pred":"mondo_id","subj":"T4","obj":"0005180"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0005395"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0015404"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0008199"},{"id":"A10","pred":"mondo_id","subj":"T9","obj":"0015873"},{"id":"A11","pred":"mondo_id","subj":"T9","obj":"0005180"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0700007"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"0008199"},{"id":"A14","pred":"mondo_id","subj":"T13","obj":"0015873"},{"id":"A15","pred":"mondo_id","subj":"T13","obj":"0005180"},{"id":"A16","pred":"mondo_id","subj":"T16","obj":"0008199"},{"id":"A17","pred":"mondo_id","subj":"T16","obj":"0015873"},{"id":"A18","pred":"mondo_id","subj":"T16","obj":"0005180"},{"id":"A19","pred":"mondo_id","subj":"T19","obj":"0008199"},{"id":"A20","pred":"mondo_id","subj":"T19","obj":"0015873"},{"id":"A21","pred":"mondo_id","subj":"T19","obj":"0005180"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}

DisGeNET

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":298,"end":303},"obj":"gene:120892"},{"id":"T1","span":{"begin":419,"end":437},"obj":"disease:C0277553"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}

PubMed_ArguminSci

{"project":"PubMed_ArguminSci","denotations":[{"id":"T1","span":{"begin":95,"end":236},"obj":"DRI_Background"},{"id":"T2","span":{"begin":237,"end":438},"obj":"DRI_Background"},{"id":"T3","span":{"begin":439,"end":590},"obj":"DRI_Background"},{"id":"T4","span":{"begin":591,"end":682},"obj":"DRI_Background"},{"id":"T5","span":{"begin":683,"end":842},"obj":"DRI_Background"},{"id":"T6","span":{"begin":843,"end":918},"obj":"DRI_Challenge"},{"id":"T7","span":{"begin":919,"end":1080},"obj":"DRI_Challenge"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"19025767-5#83#89#geners34637584","span":{"begin":766,"end":772},"obj":"geners34637584"},{"id":"19025767-5#36#38#diseaseC0030567","span":{"begin":719,"end":721},"obj":"diseaseC0030567"},{"id":"19025767-5#156#158#diseaseC0030567","span":{"begin":839,"end":841},"obj":"diseaseC0030567"}],"relations":[{"id":"83#89#geners3463758436#38#diseaseC0030567","pred":"associated_with","subj":"19025767-5#83#89#geners34637584","obj":"19025767-5#36#38#diseaseC0030567"},{"id":"83#89#geners34637584156#158#diseaseC0030567","pred":"associated_with","subj":"19025767-5#83#89#geners34637584","obj":"19025767-5#156#158#diseaseC0030567"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}

DisGeNET5_gene_disease

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19025767-0#0#28#gene120892","span":{"begin":0,"end":28},"obj":"gene120892"},{"id":"19025767-0#30#35#gene120892","span":{"begin":30,"end":35},"obj":"gene120892"},{"id":"19025767-0#74#93#diseaseC0030567","span":{"begin":74,"end":93},"obj":"diseaseC0030567"}],"relations":[{"id":"0#28#gene12089274#93#diseaseC0030567","pred":"associated_with","subj":"19025767-0#0#28#gene120892","obj":"19025767-0#74#93#diseaseC0030567"},{"id":"30#35#gene12089274#93#diseaseC0030567","pred":"associated_with","subj":"19025767-0#30#35#gene120892","obj":"19025767-0#74#93#diseaseC0030567"}],"text":"Leucine-rich repeat kinase 2 (LRRK2): a key player in the pathogenesis of Parkinson's disease.\nParkinson's disease (PD) is the most common neurodegenerative movement disorder, with a prevalence of more than 1% after the age of 65 years. Mutations in the gene encoding leucine-rich repeat kinase-2 (LRRK2) have recently been linked to autosomal dominant, late-onset PD that is clinically indistinguishable from typical, idiopathic disease. LRRK2 is a multidomain protein containing several protein interaction motifs as well as dual enzymatic domains of GTPase and protein kinase activities. Disease-associated mutations are found throughout the multidomain structure of the protein. LRRK2, however, is unique among the PD-causing genes, because a missense mutation, G2019S, is a frequent determinant of not only familial but also sporadic PD. Thus, LRRK2 has emerged as a promising therapeutic target for combating PD. In this Mini-Review, we look at the current state of knowledge regarding the domain structure, amino acid substitutions, and potential functional roles of LRRK2."}