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Volumn 580, Issue 16, 2006, Pages 4000-4004

Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin

Author keywords

Endoplasmic reticulum; Mutation; WFS1; Wolfram syndrome; Wolframin

Indexed keywords

CELL PROTEIN; PROTEASOME; UNCLASSIFIED DRUG; WOLFRAMIN;

EID: 33745366067     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2006.06.036     Document Type: Article
Times cited : (26)

References (18)
  • 1
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UL nationwide study of Wolfram (DIDMOAD) syndrome
    • Barrett T.G., Bundey S.E., and Macleod A.F. Neurodegeneration and diabetes: UL nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 346 (1995) 1458-1463
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    Macleod, A.F.3
  • 2
    • 17344362695 scopus 로고    scopus 로고
    • A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
    • Inoue H., et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat. Genet. 20 (1998) 143-148
    • (1998) Nat. Genet. , vol.20 , pp. 143-148
    • Inoue, H.1
  • 3
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • Strom T.M., Hörtnagel K., Hofmann S., Gekeler F., Scharfe C., Rabl W., Gerbitz K.D., and Meitinger T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum. Mol. Genet. 7 (1998) 2021-2028
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hörtnagel, K.2    Hofmann, S.3    Gekeler, F.4    Scharfe, C.5    Rabl, W.6    Gerbitz, K.D.7    Meitinger, T.8
  • 4
    • 0035283066 scopus 로고    scopus 로고
    • 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., and Oka Y. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum. Mol. Genet. 10 (2001) 477-484
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 477-484
    • Takeda, K.1    Inoue, H.2    Tanizawa, Y.3    Matsuzaki, Y.4    Oba, J.5    Watanabe, Y.6    Shinoda, K.7    Oka, Y.8
  • 5
    • 0041919371 scopus 로고    scopus 로고
    • Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
    • Hofmann S., Philbrook C., Gerbitz K.D., and Bauer M.F. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum. Mol. Genet. 12 (2003) 2003-2012
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2003-2012
    • Hofmann, S.1    Philbrook, C.2    Gerbitz, K.D.3    Bauer, M.F.4
  • 7
    • 28244435870 scopus 로고    scopus 로고
    • 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., and Urano F. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J. Biol. Chem. 280 (2005) 39609-39615
    • (2005) J. Biol. Chem. , vol.280 , pp. 39609-39615
    • Fonseca, S.G.1    Fukuma, M.2    Lipson, K.L.3    Nguyen, L.X.4    Allen, J.R.5    Oka, Y.6    Urano, F.7
  • 8
    • 33745202552 scopus 로고    scopus 로고
    • WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells
    • Yamada T., et al. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells. Hum. Mol. Genet. 15 (2006) 1600-1609
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 1600-1609
    • Yamada, T.1
  • 10
    • 0242289603 scopus 로고    scopus 로고
    • RT-PCR for the pseudogene-free amplification of the glyceraldehyde-3-phosphate dehydrogenase gene (gapdh)
    • Harper L.V., Hilton A.C., and Jones A.F. RT-PCR for the pseudogene-free amplification of the glyceraldehyde-3-phosphate dehydrogenase gene (gapdh). Mol. Cell Probes 17 (2003) 261-265
    • (2003) Mol. Cell Probes , vol.17 , pp. 261-265
    • Harper, L.V.1    Hilton, A.C.2    Jones, A.F.3
  • 13
  • 14
    • 19444368979 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in mammals
    • Maquat L.E. Nonsense-mediated mRNA decay in mammals. J. Cell Sci. 118 (2005) 1773-1776
    • (2005) J. Cell Sci. , vol.118 , pp. 1773-1776
    • Maquat, L.E.1
  • 15
    • 0032104190 scopus 로고    scopus 로고
    • A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
    • Nagy E., and Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem. Sci. 23 (1998) 198-199
    • (1998) Trends Biochem. Sci. , vol.23 , pp. 198-199
    • Nagy, E.1    Maquat, L.E.2
  • 16
    • 0030949874 scopus 로고    scopus 로고
    • ER quality control: the cytoplasmic connection
    • Kopito R.R. ER quality control: the cytoplasmic connection. Cell 88 (1997) 427-430
    • (1997) Cell , vol.88 , pp. 427-430
    • Kopito, R.R.1
  • 17
    • 0033621165 scopus 로고    scopus 로고
    • Amyloid diseases: abnormal protein aggregation in neurodegeneration
    • Koo E.H., Lansbury Jr. P.T., and Kelly J.W. Amyloid diseases: abnormal protein aggregation in neurodegeneration. Proc. Natl. Acad. Sci. USA 96 (1999) 9989-9990
    • (1999) Proc. Natl. Acad. Sci. USA , vol.96 , pp. 9989-9990
    • Koo, E.H.1    Lansbury Jr., P.T.2    Kelly, J.W.3
  • 18
    • 0037102362 scopus 로고    scopus 로고
    • Getting out of shape
    • Dobson C.M. Getting out of shape. Nature 418 (2002) 729-730
    • (2002) Nature , vol.418 , pp. 729-730
    • Dobson, C.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.