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

被引：11
|
作者：
Yazawa, I [1 ]
Nukina, N [1 ]
Goto, J [1 ]
Kurisaki, H [1 ]
Hebisawa, A [1 ]
Kanazawa, I [1 ]
机构：
[1] TOKYO NATL HOSP,KIYOSE,TOKYO 204,JAPAN
来源：
NEUROSCIENCE LETTERS | 1997年 / 225卷 / 01期
基金：
日本科学技术振兴机构;
关键词：
dentatorubral-pallidoluysian atrophy (DRPLA); dentatorubral-pallidoluysian atrophy proteins; CAG trinucleotide repeat; glutamine repeat; mutant protein; lymphoblastoid;
D O I：
10.1016/S0304-3940(97)00189-4
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
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. (C) 1997 Elsevier Science Ireland Ltd.
引用
收藏
页码：53 / 56
页数：4
相关论文
共 50 条
  • [21] DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) - MOLECULAR-BASIS FOR WIDE CLINICAL-FEATURES OF DRPLA
    IKEUCHI, T
    KOIDE, R
    ONODERA, O
    TANAKA, H
    OYAKE, M
    TAKANO, H
    TSUJI, S
    CLINICAL NEUROSCIENCE, 1995, 3 (01) : 23 - 27
  • [22] Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA)
    Hashida, H
    Goto, J
    Suzuki, T
    Jeong, SY
    Masuda, N
    Ooie, T
    Tachiiri, Y
    Tsuchiya, H
    Kanazawa, I
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2001, 190 (1-2) : 87 - 93
  • [23] An autopsy case of Dentatorubral-pallidoluysian atrophy (DRPLA) having an elderly age of onset
    Tamagaki, C
    Asai, S
    Murata, A
    Sakata, T
    Kashii, Y
    Takase, K
    Saito, M
    BRAIN PATHOLOGY, 1997, 7 (04) : 1216 - 1216
  • [24] Intracellular aggregate formation of dentatorubral-pallidoluysian atrophy (DRPLA) protein with the extended polyglutamine
    Miyashita, T
    Nagao, K
    Ohmi, K
    Yanagisawa, H
    Okamura-Oho, Y
    Yamada, M
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 249 (01) : 96 - 102
  • [25] Dentatorubral-Pallidoluysian Atrophy (DRPLA) in Three Successive Generations with Anticipation in an Indian Family
    Kaur, Ranjot
    Agarwal, Ayush
    Garg, Divyani
    Shankar, Ashvarya
    Sharma, Pooja
    De, Tiyasha
    Wasiq, Mohammed
    Rajan, Roopa
    Garg, Ajay
    Faruq, Mohammed
    Srivastava, Achal K.
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2025, 28 (01)
  • [26] Hereditary dentatorubral-pallidoluysian atrophy
    Oyanagi, S
    NEUROPATHOLOGY, 2000, 20 : S42 - S46
  • [27] Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue
    Yazawa, I
    BIOCHEMICAL JOURNAL, 2000, 351 : 587 - 593
  • [28] Molecular analysis of Huntington's disease and dentatorubral-pallidoluysian atrophy (DRPLA) in Koreans.
    Joo, SI
    Shin, S
    Jeon, B
    Lee, SA
    Park, SS
    Cho, HI
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A405 - A405
  • [29] Dentatorubral-pallidoluysian atrophy: A cognitive profile
    Lang, J. A.
    Austin, B.
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2006, 21 (06) : 521 - 522
  • [30] Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy
    Ohta, M.
    Okuyama, R.
    Ogawa, E.
    Kisu, K.
    Sato, H.
    Aoki, M.
    Aiba, S.
    EUROPEAN JOURNAL OF NEUROLOGY, 2009, 16 (11) : 1246 - 1249
12345