Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis
about
The clinical and genetic heterogeneity of paroxysmal dyskinesias.The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderA role for cerebellum in the hereditary dystonia DYT1.The evolving spectrum of PRRT2-associated paroxysmal diseases.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.PRRT2, a network stability gene.The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.Postsynaptic RIM1 modulates synaptic function by facilitating membrane delivery of recycling NMDARs in hippocampal neurons.
P2860
Q26776399-22F8EA78-2C81-41C7-92A5-0E35FEDF9FD8Q30362390-8571DDE4-8963-42A1-8890-0DD2E02FC2E7Q30835408-51AEC896-B130-436C-8A05-8C4797CE1C1CQ30840162-6397BCC4-FB20-4ECB-900A-B987DE795AD4Q37684995-31E2309E-B068-4AE3-BE8B-63D5050F2BD6Q38644996-FF7F5F55-540E-4E6E-9264-51DE59E58745Q39090098-8BFB9B2E-6302-49F2-8A3C-8B0C01BEC062Q42357161-53868014-E79E-47F9-8557-1CDE0A8989B9Q47819833-32EE7618-949C-46E7-98A3-8545EBC5CA32Q55093074-4EAB22CF-401C-49CF-B0CE-A5E861607D37
P2860
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@ast
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@en
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@nl
type
label
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@ast
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@en
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@nl
prefLabel
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@ast
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@en
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@nl
P2093
P2860
P50
P921
P356
P1476
Protein mutated in paroxysmal ...... es synaptic vesicle exocytosis
@en
P2093
Arisa Hirano
Astrid Rohlmann
Hsien-Yang Lee
Louis J Ptáček
Richard W Tsien
Woo-Ping Ge
Yiguo Shen
Ying-Hui Fu
P2860
P304
P356
10.1073/PNAS.1501364112
P407
P577
2015-03-10T00:00:00Z