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PNKD is thought to play a role in the regulation of myofibrillogenesis. Additionally we are shipping PNKD Antibodies (35) and PNKD Kits (3) and many more products for this protein.
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study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders.
This study present the pedigree is the first PNKD family from Chinese Mainland, which is also the largest PNKD family among those reported across the globe. It included 5 generations and 26 patients.
MR-1 (show MR1 Proteins) functions as a tumor promoter in MCF7 cells by activating the MEK (show MAP2K1 Proteins)/ERK (show EPHB2 Proteins) signaling
MR-1 overexpression was tightly associated with more aggressive tumor behavior and a poor prognosis in pancreatic ductal adenocarcinoma.
MR-1 was up-regulated in gastric cancer tissues. High expression of MR-1 in gastric cancer was significantly correlated with clinical stage. Postoperative survival of the MR-1 positive group tended to be poorer than that of the MR-1 negative group.
A Taiwanese family with paroxysmal nonkinesigenic dyskinesia has a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients.
In this report we present two families with paroxysmal non-kinesigenic dyskinesia of Southern European origin carrying a PNKD protein recurrent mutation.
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
The pnkd mutation alters such a response, suggesting that a less flexible AC region may be more effective in coupling Ca(2 (show CA2 Proteins)+) binding to channel opening.
MR-1 is a novel myofibrillogenesis regulator in human muscle
PNKD KO mice, RIM1/2 protein levels are reduced and synaptic strength is impaired. Thus, PNKD is a novel synaptic protein with a regulatory role in neurotransmitter release
These findings support the hypothesis that the PNKD protein functions to modulate striatal neuro-transmitter release in response to stress and other precipitating factors.
these findings suggest that silencing MR-1 (show MR1 Proteins) protected mice myocardium against inflammatory injury induced by AngII by suppression of pro-inflammatory transcription factors NF-kappaB (show NFKB1 Proteins) and AP-1 (show JUN Proteins) signaling pathway.
MR-1 plays an aggravative role in the development of cardiac hypertrophy via activation of the nuclear factor kappaB signaling pathway
Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue.
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.
brain protein 17
, myofibrillogenesis regulator 1
, probable hydrolase PNKD
, trans-activated by hepatitis C virus core protein 2
, paroxysmal nonkinesiogenic dyskinesia
, paroxysmal nonkinesiogenic dyskinesia protein