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CNBP  -  CCHC-type zinc finger, nucleic acid...

Homo sapiens

Synonyms: CNBP1, Cellular nucleic acid-binding protein, DM2, PROMM, RNF163, ...
 
 
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Disease relevance of CNBP

 

Psychiatry related information on CNBP

 

High impact information on CNBP

 

Chemical compound and disease context of CNBP

  • The present study shows that six of seven of the Zn(2+) fingers from the CNBP protein can be used as substitutes for the Zn(2+) finger in the NH(2)-terminal position of HIV-1 NC [4].
  • A 49-year-old man had an 8-year history of persistent, isolated elevation of serum creatine kinase (hyper-CK-emia) without muscle symptoms, and no electromyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those described in DM type 2 (DM2) [11].
  • To evaluate cerebral metabolism and intergroup differences in closely matched patients with myotonic dystrophy type 2 (DM2, n = 15) and type 1 (DM1, n = 14), we performed (1)H magnetic resonance spectroscopic (MRS) analyses of the occipital and temporoparietal cortical regions as well as of subcortical frontal white matter [12].
  • We monitored the change in plasma ANP and BNP levels (as markers for left ventricular dysfunction (LVD)) in DM2 patients treated with pioglitazone (Pio) for 4 weeks [13].
  • METHODS: In a prospective double-blind multicenter study in 186 DM2 patients without manifest coronary artery disease and with dyslipidemia, the effect of a 30-week treatment with 10 and 80 mg atorvastatin or placebo on the reduction of hs-CRP levels was measured [14].
 

Biological context of CNBP

 

Anatomical context of CNBP

 

Associations of CNBP with chemical compounds

  • One of the mutants, containing the fifth CNBP Zn(2+) finger (CNBP-5) packaged reduced levels of genomic RNA and was defective in infectivity [4].
  • During arginine infusion, peak plasma insulin was lower in DM1 than in DM2 (p < 0.05) and CON (p < 0.01) [21].
  • In skeletal muscle of the DM2 patients, no significant decrease of PCr and ATP concentrations was found [19].
  • They recruited 437 subjects, ages 30-70 years (134 healthy controls, 166 type 1 and 137 type 2 diabetic patients; control [Ctr], DM1, and DM2) with no previous history of LEAD [22].
  • Two forms of CNBP differed in their relative binding to the CT- or sterol-response elements [23].
 

Physical interactions of CNBP

  • It was also found that MBNL1 can bind to repetitive motifs in ZNF9, which contain a minimal length of CCUG repeats with non-CCUG insertions [24].
 

Regulatory relationships of CNBP

 

Other interactions of CNBP

 

Analytical, diagnostic and therapeutic context of CNBP

  • We did not observe any significant alteration in ZNF9 mRNA and protein levels, as shown by QRT-PCR and Western blot analyses [28].
  • 3. Southern blotting analysis is the conventional test used to determinate the size of the repeats in the molecular diagnosis of DM2 [16].
  • Additional RT-PCR experiments demonstrated that ZNF9 pre-mRNA splicing pattern, which includes two isoforms, is unmodified in DM2 cells [28].
  • We discuss the pathogenic mechanisms that have been proposed for the myotonic dystrophies, the clinical and molecular features of DM1 and DM2, and the characterization of murine and cell-culture models that have been generated to better understand these diseases [29].
  • Our data suggest that in asymptomatic patients with persistent hyper-CK-emia, DM2 should be considered in the differential diagnosis [11].

References

  1. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Liquori, C.L., Ricker, K., Moseley, M.L., Jacobsen, J.F., Kress, W., Naylor, S.L., Day, J.W., Ranum, L.P. Science (2001) [Pubmed]
  2. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Liquori, C.L., Ikeda, Y., Weatherspoon, M., Ricker, K., Schoser, B.G., Dalton, J.C., Day, J.W., Ranum, L.P. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Linkage of proximal myotonic myopathy to chromosome 3q. Ricker, K., Grimm, T., Koch, M.C., Schneider, C., Kress, W., Reimers, C.D., Schulte-Mattler, W., Mueller-Myhsok, B., Toyka, K.V., Mueller, C.R. Neurology (1999) [Pubmed]
  4. Human cellular nucleic acid-binding protein Zn2+ fingers support replication of human immunodeficiency virus type 1 when they are substituted in the nucleocapsid protein. McGrath, C.F., Buckman, J.S., Gagliardi, T.D., Bosche, W.J., Coren, L.V., Gorelick, R.J. J. Virol. (2003) [Pubmed]
  5. The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation. Gerbasi, V.R., Link, A.J. Mol. Cell Proteomics (2007) [Pubmed]
  6. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Le Ber, I., Martinez, M., Campion, D., Laquerrière, A., Bétard, C., Bassez, G., Girard, C., Saugier-Veber, P., Raux, G., Sergeant, N., Magnier, P., Maisonobe, T., Eymard, B., Duyckaerts, C., Delacourte, A., Frebourg, T., Hannequin, D. Brain (2004) [Pubmed]
  7. Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Sansone, V., Gandossini, S., Cotelli, M., Calabria, M., Zanetti, O., Meola, G. Neurol. Sci. (2007) [Pubmed]
  8. Increased cortical atrophy in patients with Alzheimer's disease and type 2 diabetes mellitus. Biessels, G.J., De Leeuw, F.E., Lindeboom, J., Barkhof, F., Scheltens, P. J. Neurol. Neurosurg. Psychiatr. (2006) [Pubmed]
  9. Genetic mapping of a second myotonic dystrophy locus. Ranum, L.P., Rasmussen, P.F., Benzow, K.A., Koob, M.D., Day, J.W. Nat. Genet. (1998) [Pubmed]
  10. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Bachinski, L.L., Udd, B., Meola, G., Sansone, V., Bassez, G., Eymard, B., Thornton, C.A., Moxley, R.T., Harper, P.S., Rogers, M.T., Jurkat-Rott, K., Lehmann-Horn, F., Wieser, T., Gamez, J., Navarro, C., Bottani, A., Kohler, A., Shriver, M.D., Sallinen, R., Wessman, M., Zhang, S., Wright, F.A., Krahe, R. Am. J. Hum. Genet. (2003) [Pubmed]
  11. Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Merlini, L., Sabatelli, P., Columbaro, M., Bonifazi, E., Pisani, V., Massa, R., Novelli, G. Muscle Nerve (2005) [Pubmed]
  12. Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1. Vielhaber, S., Jakubiczka, S., Gaul, C., Schoenfeld, M.A., Debska-Vielhaber, G., Zierz, S., Heinze, H.J., Niessen, H.G., Kaufmann, J. Muscle Nerve (2006) [Pubmed]
  13. Plasma BNP levels in the treatment of type 2 diabetes with pioglitazone. Ogawa, S., Takeuchi, K., Ito, S. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  14. Strong decrease of high sensitivity C-reactive protein with high-dose atorvastatin in patients with type 2 diabetes mellitus. van de Ree, M.A., Huisman, M.V., Princen, H.M., Meinders, A.E., Kluft, C. Atherosclerosis (2003) [Pubmed]
  15. Myotonic dystrophy type 2. Finsterer, J. Eur. J. Neurol. (2002) [Pubmed]
  16. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population. Vallo, L., Bonifazi, E., Borgiani, P., Novelli, G., Botta, A. Mol. Cell. Probes (2005) [Pubmed]
  17. Identification of NADH dehydrogenase 1 alpha subcomplex 5 capable to transform murine fibroblasts and overexpressed in human cervical carcinoma cell lines. Shimada, T., Moriuchi, R., Mori, T., Yamada, K., Ishimaru, T., Katamine, S. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  18. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Mankodi, A., Teng-Umnuay, P., Krym, M., Henderson, D., Swanson, M., Thornton, C.A. Ann. Neurol. (2003) [Pubmed]
  19. Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): a quantitative 31P-MRS and MRI study. Schneider-Gold, C., Beer, M., Köstler, H., Buchner, S., Sandstede, J., Hahn, D., Toyka, K.V. Muscle Nerve (2004) [Pubmed]
  20. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Meola, G., Sansone, V., Perani, D., Scarone, S., Cappa, S., Dragoni, C., Cattaneo, E., Cotelli, M., Gobbo, C., Fazio, F., Siciliano, G., Mancuso, M., Vitelli, E., Zhang, S., Krahe, R., Moxley, R.T. Neuromuscul. Disord. (2003) [Pubmed]
  21. Reduction of plasma leptin concentrations by arginine but not lipid infusion in humans. Stingl, H., Raffesberg, W., Nowotny, P., Waldhäusl, W., Roden, M. Obes. Res. (2002) [Pubmed]
  22. Assessment of toe blood pressure is an effective screening method to identify diabetes patients with lower extremity arterial disease. Sahli, D., Eliasson, B., Svensson, M., Blohmé, G., Eliasson, M., Samuelsson, P., Ojbrandt, K., Eriksson, J.W. Angiology. (2004) [Pubmed]
  23. Cellular nucleic acid binding protein regulates the CT element of the human c-myc protooncogene. Michelotti, E.F., Tomonaga, T., Krutzsch, H., Levens, D. J. Biol. Chem. (1995) [Pubmed]
  24. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Kino, Y., Mori, D., Oma, Y., Takeshita, Y., Sasagawa, N., Ishiura, S. Hum. Mol. Genet. (2004) [Pubmed]
  25. An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation. Lamont, P.J., Jacob, R.L., Mastaglia, F.L., Laing, N.G. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
  26. Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Cardani, R., Mancinelli, E., Rotondo, G., Sansone, V., Meola, G. European journal of histochemistry : EJH. (2006) [Pubmed]
  27. Musculoskeletal pain in patients with myotonic dystrophy type 2. George, A., Schneider-Gold, C., Zier, S., Reiners, K., Sommer, C. Arch. Neurol. (2004) [Pubmed]
  28. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Botta, A., Caldarola, S., Vallo, L., Bonifazi, E., Fruci, D., Gullotta, F., Massa, R., Novelli, G., Loreni, F. Biochim. Biophys. Acta (2006) [Pubmed]
  29. Myotonic dystrophy: RNA pathogenesis comes into focus. Ranum, L.P., Day, J.W. Am. J. Hum. Genet. (2004) [Pubmed]
 
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