Novel mutations of wolframin: a report with a look at the protein structure
2010; Wiley; Volume: 79; Issue: 1 Linguagem: Inglês
10.1111/j.1399-0004.2010.01511.x
ISSN1399-0004
AutoresAbbas Alimadadi, Azadeh Ebrahim‐Habibi, Farzaneh Abbasi, Mahsa M. Amoli, Forough Azam Sayahpour, Bagher Larijani,
Tópico(s)Protein Kinase Regulation and GTPase Signaling
ResumoClinical GeneticsVolume 79, Issue 1 p. 96-99 Novel mutations of wolframin: a report with a look at the protein structure A Alimadadi, A Alimadadi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorA Ebrahim-Habibi, Corresponding Author A Ebrahim-Habibi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranAzadeh Ebrahim-Habibi and Farzaneh AbbasiEndocrinology and Metabolism Research CenterTehran University of Medical Sciences5th floor Dr. Shariati HospitalNorth Kargar AvenueTehran 1411413137IranTel.: (+9821) 88220038Fax: (+9821) 88220052e-mail: [email protected], [email protected]Search for more papers by this authorF Abbasi, Corresponding Author F Abbasi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranAzadeh Ebrahim-Habibi and Farzaneh AbbasiEndocrinology and Metabolism Research CenterTehran University of Medical Sciences5th floor Dr. Shariati HospitalNorth Kargar AvenueTehran 1411413137IranTel.: (+9821) 88220038Fax: (+9821) 88220052e-mail: [email protected], [email protected]Search for more papers by this authorMM Amoli, MM Amoli Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorF-A Sayahpour, F-A Sayahpour Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorB Larijani, B Larijani Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this author A Alimadadi, A Alimadadi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorA Ebrahim-Habibi, Corresponding Author A Ebrahim-Habibi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranAzadeh Ebrahim-Habibi and Farzaneh AbbasiEndocrinology and Metabolism Research CenterTehran University of Medical Sciences5th floor Dr. Shariati HospitalNorth Kargar AvenueTehran 1411413137IranTel.: (+9821) 88220038Fax: (+9821) 88220052e-mail: [email protected], [email protected]Search for more papers by this authorF Abbasi, Corresponding Author F Abbasi Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranAzadeh Ebrahim-Habibi and Farzaneh AbbasiEndocrinology and Metabolism Research CenterTehran University of Medical Sciences5th floor Dr. Shariati HospitalNorth Kargar AvenueTehran 1411413137IranTel.: (+9821) 88220038Fax: (+9821) 88220052e-mail: [email protected], [email protected]Search for more papers by this authorMM Amoli, MM Amoli Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorF-A Sayahpour, F-A Sayahpour Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this authorB Larijani, B Larijani Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, IranSearch for more papers by this author First published: 09 December 2010 https://doi.org/10.1111/j.1399-0004.2010.01511.xCitations: 6Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995: 346: 1458–1463. 2 Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997: 34: 838–841. 3 Hardy C, Khanim F, Torres R et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 1999: 65: 1279–1290. 4 Zenteno JC, Ruiz G, Perez-Cano HJ et al. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations. Mol Vis 2008: 14: 1353–1357. 5 Nickl-Jockschat T, Kunert HJ, Herpertz-Dahlmann B et al. Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. Neurocase 2008: 15: 47–52. 6 Domenech E, Kruyer H, Gomez C et al. 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Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin. FEBS Lett 2006: 580: 4000–4004. 24 Sandhu MS, Weedon MN, Fawcett KA et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007: 39: 951–953. 25 Franks PW, Rolandsson O, Debenham SL et al. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia 2008: 51: 458–463. Citing Literature Volume79, Issue1January 2011Pages 96-99 ReferencesRelatedInformation
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