Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia - Wikidata - awgldk - TriplyDB

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

http://www.wikidata.org/entity/Q33905051

about

Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics 'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.Therapeutic prospects for spinocerebellar ataxia type 2 and 3.Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.Protein kinase Cgamma autoimmunity in paraneoplastic cerebellar degeneration and non-small-cell lung cancer.Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse Structural basis of protein kinase C isoform function Establishment of a novel fluorescence-based method to evaluate chaperone-mediated autophagy in a single neuron.In vivo evidence for mTORC2-mediated actin cytoskeleton rearrangement in neurons Autoantibody-mediated disorders of the central nervous system.Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future.1-Methyl-4-phenylpyridinium affects fast axonal transport by activation of caspase and protein kinase C Protein kinase C as a stress sensor.Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions.Protection from ataxia-linked apoptosis by gap junction inhibitors Recent advances in hereditary spinocerebellar ataxias.Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA.Ablation of the mTORC2 component rictor in brain or Purkinje cells affects size and neuron morphology Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice.A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 Physiology and pathophysiology of canonical transient receptor potential channels PKCgamma-induced trafficking of AMPA receptors in embryonic zebrafish depends on NSF and PICK1 Genetic and molecular aspects of spinocerebellar ataxias.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model Loss of protein kinase Cgamma in knockout mice and increased retinal sensitivity to hyperbaric oxygen.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.IP3 receptor mutations and brain diseases in human and rodents.Genetic variations in the PRKCG gene and osteosarcoma risk in a Chinese population: a case-control study.Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations.Understanding the physiopathology of paraneoplastic and genetic cerebellar ataxia.SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.

P2860

22ff3d17bd1922f10a874e2e782be44c9ac1e08d

P248

Q21202869-3EA8D98C-2A05-4241-8F8E-790AE3DE84F4 Q22000623-5880800B-23AE-4DCE-9FA3-A14F47B1DD0A Q24531256-4AF97F37-5EB4-4D0F-A246-582FE2FD64FD Q26786113-DB8662ED-1552-4D43-A081-21A6019253A6 Q28115409-DED17A3A-51A5-4D6C-979F-E1D69D68912A Q30376687-72EB3A0A-58E8-40ED-922E-33BE0C025D8F Q30410969-08EAEF84-36BF-4A77-87E7-8B87A6F9C6C4 Q30497111-DD725E44-EB30-4533-A3DB-D0BAFEAEDE92 Q33248003-E494BEC1-A95E-4E26-AD8F-E353BEB5ED19 Q33836298-892E2FBA-202D-4BA2-84AB-D9E74DFA04AA Q33973406-79CF90B1-154F-4C25-A3DB-1299C604BC49 Q34170664-51A13F9C-4B42-41A6-A59E-B50C93933F18 Q34362461-09CB491A-E3EA-419E-97B7-BF49A5A9DE16 Q34733326-6118C492-A447-460B-9365-0B003C42E4E5 Q35589292-9D7FA9AB-90FB-4576-A6B8-83082ADCADA8 Q35844553-67FF75BD-FA99-4250-8FBB-A9AE6E0AC8F1 Q36003170-888E5732-E4CD-4DB2-9920-E4A7A95761F9 Q36073050-F2839444-3C32-485D-9930-A28096B05277 Q36082552-8055D97D-6092-43ED-AD09-E2EDB38C2E91 Q36085900-B55FB783-9F27-46D8-BF54-7D8720AB3EE3 Q36384774-433D3946-2195-4DD3-B90D-853BFC9402B7 Q36589172-274E10CD-600F-499A-BDB1-C182777CE7DE Q36772577-C2C603AC-35EE-42CE-9CE4-D5BFA1E6466B Q36890888-F852119D-1494-48F3-B302-240A3C9E81DD Q36987090-3A71051C-980F-40E5-BECB-DD60DFA76EFD Q37072447-B4C5E528-9596-4C38-8B6F-F64CFB3D042A Q37167817-939C01EB-119C-409D-A422-B874BA070752 Q37196137-4AF4AF11-AEBD-4181-939B-E26144410A92 Q37200324-E08279D5-654E-409E-B012-8F19B74C9F1D Q37243724-B2C853AA-97C9-469D-9E7B-35FC0AB1616B Q37619548-8A63FB58-1B1B-40C6-BEBB-99C5EA9FA7A3 Q38642817-A2E535A9-CD79-4D63-8FEA-D02ECFD153E0 Q38808532-2A889BB1-2602-4BFF-B5B3-40C650BC471A Q38915057-C172302F-FF44-439D-A600-217F28CEDF82 Q39112358-8A9B3A4A-229D-46FC-90E2-562A53A4A419 Q39140608-E8EEF5C1-BD73-454F-BE9F-8A348916E549 Q41461988-3ADC1632-E55C-451C-8057-8E12C6797873 Q42494093-47C51A79-EED0-452F-A875-212785AEF2CC Q42718371-100A0E41-B50F-4169-BBB1-552B04272480 Q43905253-411CC5E4-77F8-4C8E-9D9D-FDD48B8A6CBB

P2860

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

http://www.wikidata.org/entity/Q33905051

description

2003 nî lūn-bûn

@nan

2003 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի մարտին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@ast

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@en

type

label

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@ast

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@en

prefLabel

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@ast

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@en

P1433

Q33905051-0A4BE102-F1E0-43C4-8635-84FA6EABC925

P1476

Q33905051-A0757A0B-1538-4D7D-972E-314A4B0AC452

P2093

Q33905051-1E7DC982-2F54-4465-9E69-202CDB494F11

Q33905051-3148AA6E-F282-413E-A987-8BE7D2C1150F

Q33905051-31EA941A-5730-4D2D-88F5-B935EB8982BA

Q33905051-516250B3-FC1C-4A22-BE10-F237C77A405F

Q33905051-56F3BC4F-C370-4EEB-98BA-FACDEFC8E866

Q33905051-92286A4A-851D-459A-B567-70F51701CD86

Q33905051-9B334FE0-ABAE-47C7-8C20-F3E2C206F967

Q33905051-A1E7E10B-C33D-4CE1-8665-5C9E3D4B55CA

Q33905051-AA5781DD-3D72-4FE9-8FC7-B77FCC821AFA

Q33905051-E40C20DD-C33E-4A90-B00C-C7A0C8ACBA0C

P2860

Q33905051-02B7B78D-6F6C-44A2-B6DE-6D4DD6BBD14B

Q33905051-1A1DF974-A0F2-4F82-A11E-30B8EFF838E8

Q33905051-232636E0-D940-47EC-AB61-501F936D85CD

Q33905051-2C4792C9-1F67-4949-BEAF-E5C8E3253BC9

Q33905051-43086085-35B9-4194-BB5E-7DE36252CE48

Q33905051-4D8D8352-266D-4BA3-A14C-2DF021CADC9D

Q33905051-55E60A17-073A-4C6E-B6DE-052BC812DEC5

Q33905051-58B9672A-1814-4713-BCA7-66AE0448432D

Q33905051-60DBD208-78CD-44CF-AA8D-FA45CAA2DE41

Q33905051-69AB82D2-6145-4927-A2F5-5D9478C37837

P304

Q33905051-BEAFE96C-16F0-4403-9783-21414EB14673

P31

Q33905051-CFC0A1AF-85DD-4DD1-B38A-1F66E4B7E7A9

P356

Q33905051-13683A93-773A-4872-824F-1DF5CAE603FA

P407

Q33905051-7B46DC81-B893-4A02-B12B-3E5BD39F97E0

P433

Q33905051-2351F53E-F917-4697-B802-F351ECC5394F

P478

Q33905051-524EC16F-35B8-4F56-9FCA-3E88FDF7DDDD

P50

Q33905051-AF571102-44BB-4345-822B-63D618959621

P577

Q33905051-23F8F2F5-EDD3-44FC-AFB7-5AA1D2E928CE

P5875

Q33905051-083CFD25-76E7-4C03-932C-6715F5C302A5

P698

Q33905051-268F7360-1EBB-484B-8999-4FFE25428FD2

P932

Q33905051-CC7C4F16-1B59-4AF2-8F6A-D32C4BF98633

P356

P1433

American Journal of Human Genetics

P1476

Missense mutations in the regu ...... nonepisodic cerebellar ataxia

@en

P2093

Christophe L M J Verlinde

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

David Nochlin

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

Dong-Hui Chen

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

Hillary Lipe

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

John Wolff

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

Laura Bylenok

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

Magali Fernandez

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

Mark Matsushita

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

Thomas D Bird

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

Wendy H Raskind

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

P2860

Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

Crystal structure of the cys2 activator-binding domain of protein kinase C delta in complex with phorbol ester

NMR structure of a protein kinase C-gamma phorbol-binding domain and study of protein-lipid micelle interactions

Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice

Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice

Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions.

Cerebellar/spinocerebellar syndromes.

Zinc and disease of the brain.

Cloning and expression of multiple protein kinase C cDNAs.

P304

839-849

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

P31

scholarly article

P356

10.1086/373883

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

P407

P433

4

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

P478

72

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

P50

P577

2003-03-17T00:00:00Z

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

P5875

10849044

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

P698

12644968

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

P932

1180348

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