Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability - Wikidata - awgldk - TriplyDB

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

http://www.wikidata.org/entity/Q28235413

about

The Chemical Biology of Human Metallo-β-Lactamase Fold Proteins The clinical and genetic heterogeneity of paroxysmal dyskinesias.Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Proteome changes in the small intestinal mucosa of broilers (Gallus gallus) induced by high concentrations of atmospheric ammonia.The genetics of dystonias.Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.The genetics of dystonia: new twists in an old tale.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Bioenergetic state regulates innate inflammatory responses through the transcriptional co-repressor CtBP Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD.The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.

P2860

Q26775167-CF55105B-2398-458B-A412-B95ADEEB7DAE Q26776399-33F839E9-34FE-4735-A30C-71702498F684 Q28258120-4DCABAA3-1EC3-465E-B595-6D302C0232E8 Q30528874-D57F6A03-C5D4-4895-A51B-DDAC15BDD0BC Q35142082-55AC4841-6FBE-4219-B72C-A4694B50AA55 Q36934972-7E1BF7DF-8CA2-4DF8-9D22-D12FCA61BA30 Q37367984-136BC6E5-1A02-4526-A675-8ACAE93AEF74 Q38115272-7CE4F049-6CDC-45FF-BF98-EBADDB0793AB Q39090098-9A1AABE8-C640-4DDA-A395-C6427165262D Q41693673-AB5FA398-0234-4B78-9DFC-7B6E75677B22 Q47441027-FE4FC30A-0444-4831-986C-C77E4608B16B Q47819833-6EC23244-C1A8-434A-A490-F5AC1DD6B391

P2860

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

http://www.wikidata.org/entity/Q28235413

description

2011 nî lūn-bûn

@nan

2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@ast

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@en

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@nl

type

label

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@ast

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@en

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@nl

prefLabel

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@ast

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@en

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@nl

P1433

Q28235413-E695FF7E-64DD-475E-A1A8-E2AD1A5808B5

P1476

Q28235413-8924D1CD-4BCA-4AAD-BF55-53137E32855B

P2093

Q28235413-23D836FC-73B6-43D3-AD2B-FE31BE39628F

Q28235413-41C14A8B-3FAA-428A-AD55-C960D9DE81DD

Q28235413-5770AD5D-DC04-49C0-BCFB-436E6E29E501

Q28235413-606A43CD-5995-445F-A8F4-7F37D72487D2

Q28235413-A12A9A04-65AC-49CF-AD08-B36AC8133586

Q28235413-EF49E9D2-21B7-4569-87E1-B500E6459093

P2860

Q28235413-0E037C5C-D05C-40DD-A29C-E929129C8294

Q28235413-0EE715EF-A030-4969-AF34-2032C87EE89E

Q28235413-1326735D-867E-4863-8E6C-E05A5D6251B9

Q28235413-15F1E5DA-59A5-4094-84E2-AFE6BA0523E2

Q28235413-1D391703-1079-4A79-8DFD-6BD535B24F29

Q28235413-22CE9E55-0FB3-4CC9-A65F-90ACF05A686B

Q28235413-23D845A2-0675-4BB3-B904-18DBB4BCD990

Q28235413-2DBE0773-FCD1-4FBE-94BC-A49A56E64DF9

Q28235413-30036DA5-F57B-4C38-BD8A-910E659CC1E8

Q28235413-3560A3D2-0995-4482-B63F-CE94A58A3A9A

P304

Q28235413-CABA3E42-FBBD-495D-BFDE-45589CB2A7E9

P31

Q28235413-4B43E774-D2BB-434B-A615-ACF0C6B48608

P3181

Q28235413-7F08D5F6-3B70-42F2-A6AB-23FCD4CDBC60

P356

Q28235413-1532950D-2C71-46A0-89EA-305A06FD6F2A

P407

Q28235413-B6B2B4CC-397B-4A2F-9C9A-9BD68D1B33E6

P433

Q28235413-2B1F566C-2A0D-4963-9AC6-859710EF471D

P478

Q28235413-BC660658-BA26-420A-9085-94A84E706600

P50

Q28235413-0FBA347F-23C9-4F12-909C-6144B9A0EB11

P577

Q28235413-053EC6AB-7571-4BD3-B508-2176795BBAB4

P5875

Q28235413-0E5987A8-D24B-496D-B722-652F2CC3CD14

P698

Q28235413-B3A06077-34DE-40F9-A198-E872D2FED9CD

P921

Q28235413-354C0297-A74A-432A-B67D-4B157CEBF62D

P932

Q28235413-8C86FB7F-314B-4699-9B64-F1901F0D3CBA

P3181

P356

P1433

Human Molecular Genetics

P1476

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

@en

P2093

Hsien-Yang Lee

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

Joel Rawson

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

Louis J Ptácek

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

Sunil Ojha

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

Yiguo Shen

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

Ying-Hui Fu

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

P2860

Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant

A mitochondrial protein compendium elucidates complex I disease biology

Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

Classification and genetics of dystonia

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

Glutathione and glutathione-dependent enzymes represent a co-ordinately regulated defence against oxidative stress.

Clinical and molecular genetics of primary dystonias.

Glutathione, oxidative stress and neurodegeneration.

The glyoxalase system in health and disease.

P304

2322-32

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

P31

scholarly article

P3181

5104903

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

P356

10.1093/HMG/DDR125

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

P407

P433

12

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

P478

20

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

P50

Patricia Babbitt

P577

2011-06-15T00:00:00Z

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

P5875

51045682

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

P698

21487022

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

P921

P932

3098736

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