1篇
您的检索式：作者名="Alexander A.Pushkov"
|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene显示文摘Mucopolysaccharidosis type II(MPS II)is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase(IDS)gene.In this study,IDS activity in peripheral mononuclear blood monocytes(PMBCs)was measured with a fluorimetric enzyme assay.Urinary glycosaminoglycans(GAGs)were quantified using a colorimetric assay.All IDS exons and intronic flanks were bidirectionally sequenced.A total of 15 mutations(all exonic region)were found in 17 MPS II patients.In this cohort of MPS II patients,all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions.Mutations p.Arg88His and p.Arg172*occurred twice.All mutations were inherited except for p.Gly489Alafs*7,a germline mutation.We found four new mutations(p.Ser142Phe,p.Arg233Gly,p.Glu430*,and p.Ile360Tyrfs*31).In Epstein-Barr virus(EBV)-immortalized PMBCs derived from the MPS II patients,no IDS protein was detected in case of the p.Ser142Phe and p.Ile360Tyrfs*31 mutants.For p.Arg233Gly and p.Glu430*,we observed a residual expression of IDS.The p.Arg233Gly and p.Glu430*mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold,respectively,compared with healthy controls.This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation. | Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill V.Savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove | 2014 | Journal of Genetics and Genomics2014，41，4： | 2 |
您所在的机构暂未开通此部分的功能，请联系管理员