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  ST3GAL3 mutations impair the development of higher cognitive functions

Hu, H., Eggers, K., Chen, W., Garshasbi, M., Motazacker, M. M., Wrogemann, K., et al. (2011). ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet, 89(3), 407-14. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21907012 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=276895&_user=28761&_pii=S0002929711003582&_check=y&_origin=article&_zone=toolbar&_coverDate=09-Sep-2011&view=c&originContentFamily=serial&wchp=dGLzVBA-zSkzV&md5=ab2758a5b1a539cb2a092f70d9938c9c/1-s2.0-S0002929711003582-main.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7995-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7996-7
Genre: Journal Article

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 Creators:
Hu, H.1, Author              
Eggers, K., Author
Chen, W.1, Author              
Garshasbi, M.1, Author              
Motazacker, M. M., Author
Wrogemann, K., Author
Kahrizi, K., Author
Tzschach, A.1, Author              
Hosseini, M., Author
Bahman, I., Author
Hucho, T., Author
Muhlenhoff, M., Author
Gerardy-Schahn, R., Author
Najmabadi, H., Author
Ropers, H. H.1, Author              
Kuss, A. W.2, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Free keywords: DNA Mutational Analysis; Endoplasmic Reticulum/metabolism; Female; Genetic Predisposition to Disease/*genetics; Humans; Immunoblotting; Immunohistochemistry; Immunoprecipitation; Intellectual Disability/*enzymology/genetics; Iran; Male; Mutation, Missense/genetics; Pedigree; Plasmids/genetics; Sialyltransferases/*genetics/metabolism
 Abstract: The genetic variants leading to impairment of intellectual performance are highly diverse and are still poorly understood. ST3GAL3 encodes the Golgi enzyme beta-galactoside-alpha2,3-sialyltransferase-III that in humans predominantly forms the sialyl Lewis a epitope on proteins. ST3GAL3 resides on chromosome 1 within the MRT4 locus previously identified to associate with nonsyndromic autosomal recessive intellectual disability. We searched for the disease-causing mutations in the MRT4 family and a second independent consanguineous Iranian family by using a combination of chromosome sorting and next-generation sequencing. Two different missense changes in ST3GAL3 cosegregate with the disease but were absent in more than 1000 control chromosomes. In cellular and biochemical test systems, these mutations were shown to cause ER retention of the Golgi enzyme and drastically impair ST3Gal-III functionality. Our data provide conclusive evidence that glycotopes formed by ST3Gal-III are prerequisite for attaining and/or maintaining higher cognitive functions.

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Title: Am J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 89 (3) Sequence Number: - Start / End Page: 407 - 14 Identifier: ISSN: 1537-6605 (Electronic) 0002-9297 (Linking)