| Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. | |
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MedLine Citation:
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PMID: 17251047 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit. |
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Authors:
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Massimo Santoro; Anna Modoni; Mario Sabatelli; Francesca Madia; Fiorella Piemonte; Giulia Tozzi; Enzo Ricci; Pietro A Tonali; Gabriella Silvestri |
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Publication Detail:
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Type: Journal Article Date: 2007-01-23 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 91 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2007 May |
Date Detail:
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Created Date: 2007-04-13 Completed Date: 2007-07-25 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 111-4 Citation Subset: IM |
Affiliation:
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Institute of Neurology, Department of Neuroscience, Catholic University of Sacred Heart, L go A Gemelli 8, Rome, Italy. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/268800; RefSeq/NM_000521 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Exons Female Hexosaminidase B Humans Male Molecular Sequence Data Mutation, Missense* Pedigree RNA, Messenger / metabolism Sandhoff Disease / enzymology*, genetics*, metabolism beta-N-Acetylhexosaminidases / genetics*, metabolism |
| Chemical | |
Reg. No./Substance:
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0/RNA, Messenger; EC 3.2.1.52/Hexosaminidase B; EC 3.2.1.52/beta-N-Acetylhexosaminidases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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