Document Detail

Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.
MedLine Citation:
PMID:  8931689     Owner:  NLM     Status:  MEDLINE    
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.
L Cariello; T de Cristofaro; L Zanetti; T Cuomo; L Di Maio; G Campanella; S Rinaldi; P Zanetti; R Di Lauro; S Varrone
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  98     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-01-06     Completed Date:  1997-01-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  633-5     Citation Subset:  IM    
Laboratorio di Biochimica e Biologia Molecolare, Stazione Zoologica Anton Dohrn, Naples, Italy.
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MeSH Terms
Age of Onset
Huntington Disease / enzymology,  genetics*
Lymphocytes / enzymology
Middle Aged
Repetitive Sequences, Nucleic Acid
Transglutaminases / genetics*,  metabolism
Reg. No./Substance:

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