Document Detail


Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients.
MedLine Citation:
PMID:  9143016     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The genetic defect dentatorubral-pallidoluysian atrophy (DRPLA) is caused by expansion of a CAG trinucleotide repeat. The mutant gene is translated into protein whose electrophoretic mobility correlates to the number of expanded CAG trinucleotide repeats, indicating that the protein carries an expanded glutamine repeat. Using two polyclonal antibodies raised against the DRPLA gene product in immunoblotting, we determined the untruncated DRPLA proteins, and showed that the amounts of mutant and wild-type DRPLA proteins were similar in DRPLA brain tissues and lymphoblastoid cells, suggesting that regulation of the level of translation of the DRPLA gene is not central to the development of the disease.
Authors:
I Yazawa; N Nukina; J Goto; H Kurisaki; A Hebisawa; I Kanazawa
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuroscience letters     Volume:  225     ISSN:  0304-3940     ISO Abbreviation:  Neurosci. Lett.     Publication Date:  1997 Mar 
Date Detail:
Created Date:  1997-07-24     Completed Date:  1997-07-24     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  7600130     Medline TA:  Neurosci Lett     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  53-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, Institute for Brain Research, Faculty of Medicine, University of Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Case-Control Studies
Cells, Cultured
Female
Glutamine / genetics
Humans
Immunoblotting
Lymphocytes / chemistry*
Male
Middle Aged
Nerve Tissue Proteins / genetics
Nuclear Proteins / genetics
Oligonucleotides / genetics
Point Mutation*
Repetitive Sequences, Nucleic Acid
Stem Cells / chemistry*
Chemical
Reg. No./Substance:
0/HTT protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Oligonucleotides; 0/atrophin-1; 56-85-9/Glutamine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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