PNKD Antibody

1. The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes. PMID: 28199844
2. The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). PMID: 27005424
3. 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. PMID: 26598494
4. 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. PMID: 25107857
5. MR-1 functions as a tumor promoter in MCF7 cells by activating the MEK/ERK signaling PMID: 25066297
6. MR-1 overexpression was tightly associated with more aggressive tumor behavior and a poor prognosis in pancreatic ductal adenocarcinoma. PMID: 23696030
7. 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. PMID: 23082061
8. 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. PMID: 22967746
9. MR-1S is highly expressed in ovarian cancer cells and tissues. PMID: 22780969
10. In this report we present two families with paroxysmal non-kinesigenic dyskinesia of Southern European origin carrying a PNKD protein recurrent mutation. PMID: 21962874
11. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. PMID: 21487022
12. The pnkd mutation alters such a response, suggesting that a less flexible AC region may be more effective in coupling Ca(2+) binding to channel opening. PMID: 20620873
13. MR-1 is a novel myofibrillogenesis regulator in human muscle PMID: 15188056
14. Different missense mutations in exon 1 of MR1 that cosegregate with PNKD were identified in each multiplex family. These single-nucleotide mutations predicted substitution of valine for alanine in residue 7 in one family and residue 9 in the other. PMID: 15824259
15. autosomal dominant paroxysmal nonkinesigenic dyskinesia seems to be a homogenous disorder, for which the MR-1 gene is the major disease gene. PMID: 16632198
16. The Serbian family further demonstrates that recurrent MR-1 mutations are associated with paroxysmal nonkinesigenic dyskinesia. PMID: 16972263
17. Following down-regulation of MR-1, the phosphorylations of MLC2, focal adhesion kinase (FAK), and Akt were dramatically decreased PMID: 18948272
18. Our family was 1 of 8 families originally reported in which a mutation in the myofibrillogenesis regulator 1 (MR-1) gene caused the paroxysmal non-kinesigenic dyskinesia phenotype PMID: 18948699

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HGNC: 9153

OMIM: 118800

KEGG: hsa:25953

STRING: 9606.ENSP00000273077

UniGene: Hs.98475