Literature DB >> 8931689

Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.

L Cariello1, T de Cristofaro, L Zanetti, T Cuomo, L Di Maio, G Campanella, S Rinaldi, P Zanetti, R Di Lauro, S Varrone.   

Abstract

Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether it was altered in this condition. TGase activity was above maximum control levels in 25% of HD patients; it was correlated with the age of the patient and inversely correlated with the CAG repeat length. These results suggest that: (1) HD could be biochemically heterogeneous, and (2) the length of the CAG repeat expansion/TGase ratio could be important in the manifestation of HD.

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Year:  1996        PMID： 8931689     DOI： 10.1007/s004390050273

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Therapeutic effects of cystamine in a murine model of Huntington's disease.

Authors:  Alpaslan Dedeoglu; James K Kubilus; Thomas M Jeitner; Samantha A Matson; Misha Bogdanov; Neil W Kowall; Wayne R Matson; Arthur J L Cooper; Rajiv R Ratan; M Flint Beal; Steven M Hersch; Robert J Ferrante
Journal:  J Neurosci       Date:  2002-10-15       Impact factor: 6.167

2.  Mitochondrial aconitase is a transglutaminase 2 substrate: transglutamination is a probable mechanism contributing to high-molecular-weight aggregates of aconitase and loss of aconitase activity in Huntington disease brain.

Authors:  Soo-Youl Kim; Lyuben Marekov; Parvesh Bubber; Susan E Browne; Irina Stavrovskaya; Jongmin Lee; Peter M Steinert; John P Blass; M Flint Beal; Gary E Gibson; Arthur J L Cooper
Journal:  Neurochem Res       Date:  2005-10       Impact factor: 3.996

3.  Neurodegenerative diseases and transglutaminase.

Authors:  L Lorand
Journal:  Proc Natl Acad Sci U S A       Date:  1996-12-10       Impact factor: 11.205

4.  Irreversible 4-Aminopiperidine Transglutaminase 2 Inhibitors for Huntington's Disease.

Authors:  Michael E Prime; Frederick A Brookfield; Stephen M Courtney; Simon Gaines; Richard W Marston; Osamu Ichihara; Marie Li; Darshan Vaidya; Helen Williams; Anna Pedret-Dunn; Laura Reed; Sabine Schaertl; Leticia Toledo-Sherman; Maria Beconi; Douglas Macdonald; Ignacio Muñoz-Sanjuan; Celia Dominguez; John Wityak
Journal:  ACS Med Chem Lett       Date:  2012-08-09       Impact factor: 4.345

5.  SAR Development of Lysine-Based Irreversible Inhibitors of Transglutaminase 2 for Huntington's Disease.

Authors:  John Wityak; Michael E Prime; Frederick A Brookfield; Stephen M Courtney; Sayeh Erfan; Siw Johnsen; Peter D Johnson; Marie Li; Richard W Marston; Laura Reed; Darshan Vaidya; Sabine Schaertl; Anna Pedret-Dunn; Maria Beconi; Douglas Macdonald; Ignacio Muñoz-Sanjuan; Celia Dominguez
Journal:  ACS Med Chem Lett       Date:  2012-10-04       Impact factor: 4.345

Review 6.  Of mice and men: solving the molecular mysteries of Huntington's disease.

Authors:  P F Shelbourne
Journal:  J Anat       Date:  2000-05       Impact factor: 2.610

7.  Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei.

Authors:  M V Karpuj; H Garren; H Slunt; D L Price; J Gusella; M W Becher; L Steinman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-22       Impact factor: 11.205

8.  Therapeutic Strategies in Huntington's Disease.

Authors:  Ichiro Kanazawa
Journal:  J Clin Neurol       Date:  2006-12-20       Impact factor: 3.077

9.  Neuroprotective effects of calmodulin peptide 76-121aa: disruption of calmodulin binding to mutant huntingtin.

Authors:  Nichole L Dudek; Ying Dai; Nancy A Muma
Journal:  Brain Pathol       Date:  2009-03-10       Impact factor: 6.508

10.  Aberrant calcium signaling by transglutaminase-mediated posttranslational modification of inositol 1,4,5-trisphosphate receptors.

Authors:  Kozo Hamada; Akiko Terauchi; Kyoko Nakamura; Takayasu Higo; Nobuyuki Nukina; Nagisa Matsumoto; Chihiro Hisatsune; Takeshi Nakamura; Katsuhiko Mikoshiba
Journal:  Proc Natl Acad Sci U S A       Date:  2014-09-08       Impact factor: 11.205
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