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Your search keyword '"Muramatsu, Masa-aki"' showing total 4 results
Start Over Author "Muramatsu, Masa-aki" Journal journal of human genetics
4 results on '"Muramatsu, Masa-aki"'

1. Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin interacting protein (HIP1)

Author

Seki, Naohiko, Muramatsu, Masa-aki, Sugano, Sumio, Suzuki, Yutaka, Nakagawara, Akira, Hayashi, Akiko, Hori, Tadaaki, and Saito, Toshiyuki

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, mental disorders, nervous system diseases
Abstract

Huntington disease (HD) is an inherited neurodegenerative disorder which is associated with CAG expansion in the coding region of the gene for huntingtin protein. Recently, a huntingtin interacting protein, HIP1, was isolated by the yeast two-hybrid system. Here we report the isolation of a cDNA clone for HIP1R (huntingtin interacting protein-1 related), which encodes a predicted protein product sharing a striking homology with HIP1. RT-PCR analysis showed that the messenger RNA was ubiquitously expressed in various human tissues. Based on PCR-assisted analysis of a radiation hybrid panel and fluorescence in situ hybridization, HIP1R was localized to the q24 region of chromosome 12.

Published
1998

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