Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease

Neuroscience Letters

Volumn 328, Issue 1, 2002, Pages 1-4

  Nazé, Peggy ^a   Vuillaume, Isabelle ^a   Destée, Alain ^a   Pasquier, Florence ^a   Sablonnière, Bernard ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Huntington's disease; Modifying genes; Mutations; Ubiquitin carboxy terminal hydrolase L1

Indexed keywords

DNA; HYDROLASE; UBIQUITIN CARBOXY TERMINAL HYDROLASE L1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; HEREDITY; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; ONSET AGE; PRIORITY JOURNAL;

EID: 0037008355     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(02)00231-8     Document Type: Article

References (20)

1. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
2. The likelihood of being affected with Huntington disease by a particular age for a specific CAG size
3. The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD
4. The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
5. Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
6. The ubiquitin pathway in Parkinson's disease
7. Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
8. Ubiquitin carboxy-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases
9. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
10. The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease
11. Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease
12. Human GluR6 kainate receptor (GRIK2): Molecular cloning, expression, polymorphism, and chromosomal assignment
13. Genotypes at the Glu R6 kainate receptor locus are associated with variation in the age at onset of Huntington disease
14. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
15. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
16. Genetic polymorphisms adjacent to the CAG repeat influences clinical features at onset in Huntington's disease
17. Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with seven neurodegenerative disorders
18. Accumulation of mutant huntingtin fragments in aggregosome-like inclusion bodies as a result of insufficient protein degradation
19. Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease