溶酶体保护蛋白/组织蛋白酶A基因敲除小鼠听力和耳形态学初步研究
Morphological and Functional Alterations of Ear in Lysosomal Protective Protein/Cathepsin A Gene Knock Out Mouse
郭运凯;谢鼎华;杨新明;
1:中南大学湘雅二医院耳鼻咽喉科和听力研究所
2:中南大学湘雅二医院耳鼻咽喉科和听力研究所
3:中南大学湘雅二医院耳鼻咽喉科和听力研究所 长沙410011
4:长沙410011
摘要关键词基金项目(Foundation):作者参考文献1 d’Azzo A,Andria G,Strisciuglio P,et al.Galactosialidosis.In:Scriver CR,Beaudet AL,Sly WS and Vallee D(Eds),Metabolic andMolecular Bases of Inherited Disease[M].New York:Mc Graw-Hill,1995.2 835~2 837.
2 Rottier RJ,Hahn CN,Mann LW,et al.Lack of PPCA expression on-ly partially coincides with lysosomal storage in galactosialidosis mice:indirect evidence for spatial requirement of the catalytic rather than theprotective function of PPCA[J].Hum Mol Genet,1998,7:1 787.
3 Zhou XY,Morreau H,Rottier R,et al.Mouse model for the lysosomaldisorder galactosialidosis and correction of the phenotype with overex-pressing erythroid precursor cells[J].Genes Dev,1995,9:2 623.
4 Wu X,Gao J,Guo Y,et al.Hearing threshold elevation precedeshair-cell loss in prestin knock out mice[J].Mol Brain Res,2004,126:30.
5 Gorlin RJ.Genetic hearing loss associated with endocrine and metabolicdisorders.In:Gorlin RJ,Toriello HV,Cohen MM(Eds),Hereditaryhearing loss and its syndromes[M].New York:Oxford UniversityPress,1999.318~354.
6 Groener J,Maaswinkel-Mooy P,Smit V,et al.New mutations intwo Dutch patients with early infantile galactosialidosis[J].Mol GenetMetab,2003,78:222.
7 Zhou XY,van der Spoel A,Rottier R,et al.Molecular and biochemi-cal analysis of protective protein/cathepsin a mutations:correlationwith clinical severity in galactosialidosis[J].Hum Mol Genet,1996,5:1 977.
8 Okamura-Oho Y,Zhang S,Callahan JW.The biochemistry and cli-nical features of galactosialidosis[J].Biochim Biophys Acta,1994,1 225:244.
9 Ohlemiller KK,Hennig AK,Lett JM,et al.Inner ear pathology in themucopolysaccharidosis VII mouse[J].Hear Res,2002,169:69.
10 Coenen R,Gieselmann V,Lullmann-Rauch R.Morpholgical alte-rations in the ear of the arylsulfatase A-deficient mouse[J].ActaNeurophol,2001,101:491.