CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 - Test2 - elhamkhani - TriplyDB

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

http://www.wikidata.org/entity/Q28235526

about

Machado-Joseph Disease: from first descriptions to new perspectives.Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7 Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function Regulation of retrotranslocation by p97-associated deubiquitinating enzyme ataxin-3 Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion Ubiquitination directly enhances activity of the deubiquitinating enzyme ataxin-3 HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis.Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.Simple tandem DNA repeats and human genetic disease Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 The localization and interactions of huntingtin Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis External and internal triggers of cell death in yeast Cell biology of spinocerebellar ataxia Mouse models of polyglutamine diseases: review and data table. Part I The genetics and neuropathology of Parkinson's disease Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia Current understanding of the role of microRNAs in spinocerebellar ataxias Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice Novel polyglutamine model uncouples proteotoxicity from aging Investigation of the Josephin Domain protein-protein interaction by molecular dynamics Dysregulation of Ubiquitin-Proteasome System in Neurodegenerative Diseases Parkinsonism in spinocerebellar ataxia Drosophila as an In Vivo Model for Human Neurodegenerative Disease Co-chaperone HSJ1a dually regulates the proteasomal degradation of ataxin-3 Isolation and characterization of novel CAG repeat containing genes expressed in human brain Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin Down-regulation of heat shock protein 27 in neuronal cells and non-neuronal cells expressing mutant ataxin-3 HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?Aggresome formation and neurodegenerative diseases: therapeutic implications Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal Proteotoxic stress increases nuclear localization of ataxin-3

P2860

d3ff9d97371ce63a7ff9ce55797b66914284b6ad

P248

Q21202868-89ACD268-13FC-4120-91F9-495C7E4A3F32 Q22003756-6F69E28A-C60A-44D9-80DD-ADD5ECC09458 Q22009069-CA2D9E7B-9F3E-4C33-8DB3-E44C1495BDBD Q22253850-9339EA20-43E9-420B-B9E9-B71DE68CF356 Q24304415-917DB8F8-7CD1-47AD-946C-36CA376A7483 Q24310046-88A34787-932C-4AD0-A988-3B95DFB9F95B Q24310393-042C2A8A-5323-4076-9818-32765CC6B15F Q24318431-EDC6AD1C-5EF4-44A6-B95A-CBEB6DBD13F1 Q24320108-95D016B1-8170-4415-9EE8-341457949CD6 Q24321831-5093CCA5-5C17-4284-B58C-4EDAC4A69F4E Q24534867-F297B0F0-45D5-421A-A95F-82DBD9A9B189 Q24540127-A1BDE435-6578-4F0A-B331-91C9174BF993 Q24561717-0D07DFFD-6322-41AE-96E5-8173AA9C681B Q24671945-D27CF6E1-4F1F-45E1-8EE5-CD78CB170BF9 Q24675962-04840F1B-790F-4121-AAFF-A4897580B2F8 Q24676589-F65BECC7-691C-45DC-A0F4-752AB4CD7E0E Q24678584-11C3AC78-178E-4FC8-89A3-5DE961051AE9 Q24682823-3B74116E-A967-4988-8A83-9002530653AD Q26751420-DD032335-1035-4E03-8A82-EF8861A596E6 Q26829511-119DF59A-F16E-435C-88A8-5072AC143046 Q26853025-59505798-CDDE-4689-8A09-2D0CE4D8B9E2 Q26859945-AB8C1DBB-77A0-4D16-A6D8-7276D7AEA1E3 Q26864714-64A04E96-FB5A-4172-A405-A5AC72DC7986 Q27028008-8BCE874A-1E35-49EB-BC9B-28FA334A6319 Q27324749-AEA91A93-8D33-496A-AD54-1F8FACAB9B04 Q27333876-68F11379-5E58-4E40-8979-EC64B327A24F Q27343004-209253F9-D65B-42B8-BDCA-EA6473E53BEE Q28073686-A47A212A-7210-4B3C-AB88-A774C18B9B31 Q28080641-B03FA169-8899-4137-B950-6B602174FAB1 Q28088777-12988BBC-655A-4579-BB24-FDBA76B19C0D Q28115341-56E02A9F-5F76-4FF7-8CA5-6FFD60B4AB90 Q28138069-A63764E1-686B-4763-A995-89EF6C4390CE Q28141695-B79945AB-2EB6-42E6-8E57-30002C25BF26 Q28182859-1768B962-730A-460D-9AB4-C40BE732803E Q28204171-D64D596E-D8D7-4F71-BE7E-9C6D76641832 Q28204260-8B25B546-179A-4221-BF08-24CDEB495D0A Q28256940-3B41FDE0-E571-493B-8E15-7D1B6E66CEC6 Q28265926-32F24159-C6B6-48AA-8963-1DC44C09ACA1 Q28286077-637A8820-075B-4923-8BDB-4509D74B1C53 Q28506165-CDF4569E-235A-4B8C-A12E-B597132DD865

P2860

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

http://www.wikidata.org/entity/Q28235526

description

1994 nî lūn-bûn

@nan

1994 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

1994年の論文

@ja

1994年論文

@yue

1994年論文

@zh-hant

1994年論文

@zh-hk

1994年論文

@zh-mo

1994年論文

@zh-tw

1994年论文

@wuu

name

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@ast

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@en

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@nl

type

label

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@ast

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@en

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@nl

prefLabel

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@ast

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@en

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

@nl

P1433

Q28235526-65DE0593-2253-4146-AB9D-E100B6C192C4

P1476

Q28235526-FF719148-58B6-4DBB-98B7-5BA5E4A7E0B5

P2093

Q28235526-15BBA605-6BBF-4162-82F4-A71B63B44FE5

Q28235526-2C59493D-21DC-4701-A31C-842BCD157F11

Q28235526-39478C9C-A648-478E-9808-EFC28DC9565C

Q28235526-7B99ED46-1D2B-4446-9C66-DD0B454E8A3B

Q28235526-900B6B2D-77F1-4E85-803F-60B282C8ED88

Q28235526-A86DA354-F6C8-4673-9018-70F738B805AA

Q28235526-B2A707FF-5C36-4C26-913F-1D012E195578

Q28235526-BE926FF1-0103-4C07-84EC-BE8345A3C431

Q28235526-FBBB485F-6868-480F-941A-956E4B5ECF48

P2860

Q28235526-162D4CBA-2933-4ACB-8F94-6DD097098B04

Q28235526-1F80E187-8C48-4ED5-8060-4EE0581C77EA

Q28235526-37E502F7-AF88-4B99-891E-D1D5C3D1BAFE

Q28235526-3B14A774-C1DE-455D-A381-5C1ED09D3EBD

Q28235526-603A223E-8CC8-434C-B3B7-F266F4E72B2E

Q28235526-72C6E418-E2A9-4B61-9C74-3EC08363E0C0

Q28235526-7318D147-EEF7-4B52-98A3-8FF03DC24D56

Q28235526-735CEC16-DFF4-48D2-9AE0-A04A4486C68C

Q28235526-747D7A1E-45A4-412C-99A5-E42A156ECE6E

Q28235526-857D57E4-DA4A-401E-832D-1D1370469E22

P2888

Q28235526-42945BF3-D5B6-4203-9703-3209EB8729F0

P304

Q28235526-1DC1E349-8D72-44AF-8282-8FB861350ABF

P31

Q28235526-4C74C578-D248-4562-B7B8-580D6888E379

P3181

Q28235526-AB5070EF-5920-48B2-AB6D-B85A9241B423

P356

Q28235526-15C74E7C-2CC9-440C-AD01-F8617F5A78E4

P407

Q28235526-93CFFA43-4A70-4DFC-9944-4CB6EA62AE9E

P433

Q28235526-62033EB7-D7E2-47F6-BB5A-A77240D901DA

P478

Q28235526-CB7B54A1-B9D6-4545-8596-6BAFD1E073CE

P50

Q28235526-5E8CCF0D-8CCF-4C99-A8B8-52E5B287C6EC

P577

Q28235526-35026D82-EF77-4CE5-9B55-247F42F4EC21

P5875

Q28235526-4502A030-8EB6-432E-90E6-598F9EFFD384

P698

Q28235526-8D4EDF92-17FC-428A-9402-669AE3C18E28

P3181

P356

P1433

Nature Genetics

P1476

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

@en

P2093

I Akiguchi

http://www.w3.org/2001/XMLSchema#string

M Aizawa

http://www.w3.org/2001/XMLSchema#string

M Inoue

http://www.w3.org/2001/XMLSchema#string

M Nishimura

http://www.w3.org/2001/XMLSchema#string

M Taniwaki

http://www.w3.org/2001/XMLSchema#string

S Katayama

http://www.w3.org/2001/XMLSchema#string

S Nakamura

http://www.w3.org/2001/XMLSchema#string

T Okamoto

http://www.w3.org/2001/XMLSchema#string

Y Kawaguchi

http://www.w3.org/2001/XMLSchema#string

P2860

Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR alpha with a novel putative transcription factor, PML

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

The gene for Machado-Joseph disease maps to human chromosome 14q

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

P2888

P304

221-228

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

570912

http://www.w3.org/2001/XMLSchema#string

P356

10.1038/NG1194-221

http://www.w3.org/2001/XMLSchema#string

P407

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

8

http://www.w3.org/2001/XMLSchema#string

P50

Hideshi Kawakami

P577

1994-11-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

15325391

http://www.w3.org/2001/XMLSchema#string

P698

7874163

http://www.w3.org/2001/XMLSchema#string