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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23630944-0#20#28#gene6310 342-514 gene6310 denotes Although the mechanisms linking the mutation to the disease remain unclear, evidence indicates that it involves a combination of both gain and loss of functions of ataxin-1
23630944-0#50#54#gene5524 722-975 gene5524 denotes Pp2a activity and the regulation of its holoenzyme composition, with the polyglutamine mutation within Atxn1 altering this function in the SCA1 mouse cerebellum before disease onset. We show that ataxin-1 enhances Pp2a-bβ expression and down-regulates A
23630944-0#87#116#diseaseC0752120 1387-1890 diseaseC0752120 denotes subunit, specifically bβ2, and of Anp32a occur at the transcriptional level. The Pp2a pathway alterations were confirmed by identified phosphorylation changes of the known Pp2a-substrates, Erk2 and Gsk3β. Similarly, mutant ataxin-1-expressing SH-SY5Y cells exhibit abnormal neuritic morphology, decreased levels of both PP2A-Bβ and ANP32A, and PP2A pathway alterations, all of which are ameliorated by overexpressing ANP32A. Our results point to dysregulation of this newly assigned function of ataxin-1
23630944-1#44#52#gene6310 162-170 gene6310 denotes ataxin-1
23630944-1#44#52#gene6310 162-170 gene6310 denotes ataxin-1
23630944-1#176#182#diseaseC0004134 294-300 diseaseC0004134 denotes ataxia
23630944-1#176#182#diseaseC0007758 294-300 diseaseC0007758 denotes ataxia
23630944-1#132#158#diseaseC0524851 250-276 diseaseC0524851 denotes neurodegenerative disorder
23630944-3#61#67#gene8125 577-583 gene8125 denotes Anp32a
23630944-3#137#141#diseaseC0752120 653-657 diseaseC0752120 denotes SCA1
20#28#gene631087#116#diseaseC0752120 23630944-0#20#28#gene6310 23630944-0#87#116#diseaseC0752120 associated_with "Although the mechanisms linking the mutation to the disease remain unclear, evidence indicates that it involves a combination of both gain and loss of functions of ataxin-1","subunit, specifically bβ2, and of Anp32a occur at the transcriptional level. The Pp2a pathway alterations were confirmed by identified phosphorylation changes of the known Pp2a-substrates, Erk2 and Gsk3β. Similarly, mutant ataxin-1-expressing SH-SY5Y cells exhibit abnormal neuritic morphology, decreased levels of both PP2A-Bβ and ANP32A, and PP2A pathway alterations, all of which are ameliorated by overexpressing ANP32A. Our results point to dysregulation of this newly assigned function of ataxin-1"
50#54#gene552487#116#diseaseC0752120 23630944-0#50#54#gene5524 23630944-0#87#116#diseaseC0752120 associated_with "Pp2a activity and the regulation of its holoenzyme composition, with the polyglutamine mutation within Atxn1 altering this function in the SCA1 mouse cerebellum before disease onset. We show that ataxin-1 enhances Pp2a-bβ expression and down-regulates A","subunit, specifically bβ2, and of Anp32a occur at the transcriptional level. The Pp2a pathway alterations were confirmed by identified phosphorylation changes of the known Pp2a-substrates, Erk2 and Gsk3β. Similarly, mutant ataxin-1-expressing SH-SY5Y cells exhibit abnormal neuritic morphology, decreased levels of both PP2A-Bβ and ANP32A, and PP2A pathway alterations, all of which are ameliorated by overexpressing ANP32A. Our results point to dysregulation of this newly assigned function of ataxin-1"
44#52#gene6310176#182#diseaseC0004134 23630944-1#44#52#gene6310 23630944-1#176#182#diseaseC0004134 associated_with ataxin-1,ataxia
44#52#gene6310176#182#diseaseC0007758 23630944-1#44#52#gene6310 23630944-1#176#182#diseaseC0007758 associated_with ataxin-1,ataxia
44#52#gene6310132#158#diseaseC0524851 23630944-1#44#52#gene6310 23630944-1#132#158#diseaseC0524851 associated_with ataxin-1,neurodegenerative disorder
44#52#gene6310176#182#diseaseC0004134 23630944-1#44#52#gene6310 23630944-1#176#182#diseaseC0004134 associated_with ataxin-1,ataxia
44#52#gene6310176#182#diseaseC0007758 23630944-1#44#52#gene6310 23630944-1#176#182#diseaseC0007758 associated_with ataxin-1,ataxia
44#52#gene6310132#158#diseaseC0524851 23630944-1#44#52#gene6310 23630944-1#132#158#diseaseC0524851 associated_with ataxin-1,neurodegenerative disorder
61#67#gene8125137#141#diseaseC0752120 23630944-3#61#67#gene8125 23630944-3#137#141#diseaseC0752120 associated_with Anp32a,SCA1

DisGeNET

Id Subject Object Predicate Lexical cue
T0 162-170 gene:6310 denotes ataxin-1
T1 189-218 disease:C0752120 denotes spinocerebellar ataxia type 1
T2 162-170 gene:6310 denotes ataxin-1
T3 220-224 disease:C0752120 denotes SCA1
T4 162-170 gene:6310 denotes ataxin-1
T5 250-276 disease:C0524851 denotes neurodegenerative disorder
T6 162-170 gene:6310 denotes ataxin-1
T7 294-300 disease:C0004134 denotes ataxia
T8 553-561 gene:6310 denotes ataxin-1
T9 653-657 disease:C0752120 denotes SCA1
T10 645-649 gene:5524 denotes PP2A
T11 653-657 disease:C0752120 denotes SCA1
T12 608-612 gene:5524 denotes PP2A
T13 653-657 disease:C0752120 denotes SCA1
T14 694-702 gene:6310 denotes ataxin-1
T15 861-865 disease:C0752120 denotes SCA1
T16 722-726 gene:5524 denotes Pp2a
T17 861-865 disease:C0752120 denotes SCA1
T18 825-830 gene:6310 denotes Atxn1
T19 861-865 disease:C0752120 denotes SCA1
R1 T0 T1 associated_with ataxin-1,spinocerebellar ataxia type 1
R2 T2 T3 associated_with ataxin-1,SCA1
R3 T4 T5 associated_with ataxin-1,neurodegenerative disorder
R4 T6 T7 associated_with ataxin-1,ataxia
R5 T8 T9 associated_with ataxin-1,SCA1
R6 T10 T11 associated_with PP2A,SCA1
R7 T12 T13 associated_with PP2A,SCA1
R8 T14 T15 associated_with ataxin-1,SCA1
R9 T16 T17 associated_with Pp2a,SCA1
R10 T18 T19 associated_with Atxn1,SCA1

Allie

Id Subject Object Predicate Lexical cue
SS1_23630944_1_0 189-218 expanded denotes spinocerebellar ataxia type 1
SS2_23630944_1_0 220-224 abbr denotes SCA1
SS1_23630944_5_0 1042-1064 expanded denotes Pp2a catalytic subunit
SS2_23630944_5_0 1066-1072 abbr denotes Pp2a-c
AE1_23630944_1_0 SS1_23630944_1_0 SS2_23630944_1_0 abbreviatedTo spinocerebellar ataxia type 1,SCA1
AE1_23630944_5_0 SS1_23630944_5_0 SS2_23630944_5_0 abbreviatedTo Pp2a catalytic subunit,Pp2a-c

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 205-211 HP_0001251 denotes ataxia
T2 294-300 HP_0001251 denotes ataxia