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WFS1  -  Wolfram syndrome 1 (wolframin)

Homo sapiens

 
 
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Disease relevance of WFS1

 

Psychiatry related information on WFS1

 

High impact information on WFS1

 

Chemical compound and disease context of WFS1

 

Biological context of WFS1

 

Anatomical context of WFS1

 

Associations of WFS1 with chemical compounds

  • Direct DNA sequencing was done to screen the entire coding region of the WFS1 gene in 30 patients from 19 British kindreds with Wolfram syndrome [1].
  • Treatment of fibroblasts and MIN6 cells with thapsigargin or tunicamycin increased WFS1 mRNA [18].
  • Inositol triphosphate was capable of activating channels in the fused bilayers that were similar to channel components induced by wolframin expression [19].
  • A response to 'Rapidly repeated intravenous boluses of salbutamol for acute severe asthma' Sellers WFS, Messahel B, Anaesthesia 2003; 58: 680-3 [20].
 

Regulatory relationships of WFS1

 

Other interactions of WFS1

 

Analytical, diagnostic and therapeutic context of WFS1

References

  1. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Hardy, C., Khanim, F., Torres, R., Scott-Brown, M., Seller, A., Poulton, J., Collier, D., Kirk, J., Polymeropoulos, M., Latif, F., Barrett, T. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Young, T.L., Ives, E., Lynch, E., Person, R., Snook, S., MacLaren, L., Cater, T., Griffin, A., Fernandez, B., Lee, M.K., King, M.C., Cator, T. Hum. Mol. Genet. (2001) [Pubmed]
  3. WFS1 mutations in Spanish patients with diabetes mellitus and deafness. Domènech, E., Gómez-Zaera, M., Nunes, V. Eur. J. Hum. Genet. (2002) [Pubmed]
  4. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. Awata, T., Inoue, K., Kurihara, S., Ohkubo, T., Inoue, I., Abe, T., Takino, H., Kanazawa, Y., Katayama, S. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  5. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Gómez-Zaera, M., Strom, T.M., Rodríguez, B., Estivill, X., Meitinger, T., Nunes, V. Mol. Genet. Metab. (2001) [Pubmed]
  6. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. Ohtsuki, T., Ishiguro, H., Yoshikawa, T., Arinami, T. Journal of affective disorders. (2000) [Pubmed]
  7. Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. Sequeira, A., Kim, C., Seguin, M., Lesage, A., Chawky, N., Desautels, A., Tousignant, M., Vanier, C., Lipp, O., Benkelfat, C., Rouleau, G., Turecki, G. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2003) [Pubmed]
  8. No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans. Kato, T., Iwamoto, K., Washizuka, S., Mori, K., Tajima, O., Akiyama, T., Nanko, S., Kunugi, H., Kato, N. Neurosci. Lett. (2003) [Pubmed]
  9. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E., Mueckler, M., Marshall, H., Donis-Keller, H., Crock, P., Rogers, D., Mikuni, M., Kumashiro, H., Higashi, K., Sobue, G., Oka, Y., Permutt, M.A. Nat. Genet. (1998) [Pubmed]
  10. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Barrett, T.G., Bundey, S.E., Macleod, A.F. Lancet (1995) [Pubmed]
  11. WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. Takei, D., Ishihara, H., Yamaguchi, S., Yamada, T., Tamura, A., Katagiri, H., Maruyama, Y., Oka, Y. FEBS Lett. (2006) [Pubmed]
  12. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. Eiberg, H., Hansen, L., Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T., Tranebjaerg, L. J. Med. Genet. (2006) [Pubmed]
  13. Vasopressin secretion in the DIDMOAD (Wolfram) syndrome. Thompson, C.J., Charlton, J., Walford, S., Baird, J., Hearnshaw, J., McCulloch, A., Kelly, W., Baylis, P.H. Q. J. Med. (1989) [Pubmed]
  14. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Bespalova, I.N., Van Camp, G., Bom, S.J., Brown, D.J., Cryns, K., DeWan, A.T., Erson, A.E., Flothmann, K., Kunst, H.P., Kurnool, P., Sivakumaran, T.A., Cremers, C.W., Leal, S.M., Burmeister, M., Lesperance, M.M. Hum. Mol. Genet. (2001) [Pubmed]
  15. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. Fonseca, S.G., Fukuma, M., Lipson, K.L., Nguyen, L.X., Allen, J.R., Oka, Y., Urano, F. J. Biol. Chem. (2005) [Pubmed]
  16. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hofmann, S., Philbrook, C., Gerbitz, K.D., Bauer, M.F. Hum. Mol. Genet. (2003) [Pubmed]
  17. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Takeda, K., Inoue, H., Tanizawa, Y., Matsuzaki, Y., Oba, J., Watanabe, Y., Shinoda, K., Oka, Y. Hum. Mol. Genet. (2001) [Pubmed]
  18. Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation. Ueda, K., Kawano, J., Takeda, K., Yujiri, T., Tanabe, K., Anno, T., Akiyama, M., Nozaki, J., Yoshinaga, T., Koizumi, A., Shinoda, K., Oka, Y., Tanizawa, Y. Eur. J. Endocrinol. (2005) [Pubmed]
  19. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. Osman, A.A., Saito, M., Makepeace, C., Permutt, M.A., Schlesinger, P., Mueckler, M. J. Biol. Chem. (2003) [Pubmed]
  20. A response to 'Rapidly repeated intravenous boluses of salbutamol for acute severe asthma' Sellers WFS, Messahel B, Anaesthesia 2003; 58: 680-3. MaCartney, N.J. Anaesthesia. (2003) [Pubmed]
  21. XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells. Kakiuchi, C., Ishiwata, M., Hayashi, A., Kato, T. J. Neurochem. (2006) [Pubmed]
  22. Molecular genetics of bipolar disorder. Kato, T. Neurosci. Res. (2001) [Pubmed]
  23. Genetic screening for hearing loss. Hone, S.W., Smith, R.J. Clinical otolaryngology and allied sciences. (2003) [Pubmed]
  24. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. al-Sheyyab, M., Jarrah, N., Younis, E., Shennak, M.M., Hadidi, A., Awidi, A., el-Shanti, H., Ajlouni, K. Eur. J. Pediatr. (2001) [Pubmed]
  25. Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. Sivakumaran, T.A., Lesperance, M.M. Int. J. Mol. Med. (2004) [Pubmed]
  26. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Evans, K.L., Lawson, D., Meitinger, T., Blackwood, D.H., Porteous, D.J. Am. J. Med. Genet. (2000) [Pubmed]
  27. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene. Domènech, E., Kruyer, H., Gómez, C., Calvo, M.T., Nunes, V. Prenat. Diagn. (2004) [Pubmed]
 
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