Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients

  • Yazawa I
  • Nukina N
  • Goto J
 et al. 
  • 5

    Readers

    Mendeley users who have this article in their library.
  • 11

    Citations

    Citations of this article.

Abstract

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.

Author-supplied keywords

  • CAG trinucleotide repeat
  • Dentatorubral-pallidoluysian atrophy (DRPLA)
  • Dentatorubral-pallidoluysian atrophy proteins
  • Glutamine repeat
  • Lymphoblastoid cells
  • Mutant protein

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Nobuyuki Nukina

  • Jun Goto

  • Hiroshi Kurisaki

  • Akira Hebisawa

  • Ichiro Kanazawa

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free