Identification of alternative splicing of spinocerebellar ataxia type 2 gene

Gene

Volumn 267, Issue 1, 2001, Pages 89-93

  Affaitati, Adelina ^a   De Cristofaro, Tiziana ^a   Feliciello, Antonio ^a   Varrone, Stelio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Ataxin 2 isoforms; Bp, base pair (s); CAG repeat; cDNA, DNA complementary to RNA; dNTP, deoxyribonucleoside triphosphate; Genomic structure; kb, 1000 bp; kDa, Kilodalton (s); Neurodegenerative disorders

Indexed keywords

PROTEIN; PROTEIN ATAXIN 2; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL TISSUE; ARTICLE; BRAIN; CEREBELLUM; CONTROLLED STUDY; EXON; GENE EXPRESSION; HEART; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PLACENTA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN VARIANT; SPINAL CORD; SPINOCEREBELLAR DEGENERATION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, NORTHERN; DNA, COMPLEMENTARY; FEMALE; HUMANS; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PROTEINS; RNA; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TISSUE DISTRIBUTION;

ATAXIA;

EID: 0035804675     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00402-4     Document Type: Article

References (25)

1. Identification and characterization of the gene causing type 1 spinocerebellar ataxia
2. Getting into the Golgi
3. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
4. The length of polyglutamine tract, its level of expression, the rate of degradation, and the transglutaminase activity influence the formation of intracellular aggregates
5. Polyglutamine-mediated aggregation and cell death
6. Spinocerebellar ataxia type 2 in southern Italy: A clinical and molecular study of 30 families
7. Gain of glutamines, gain of function?
8. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
9. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
10. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
11. Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: Triple-labeling immunofluorescent study
12. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
13. Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats
14. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
15. Exonic trinucleotide repeats and expression of androgen receptor gene in spinal cord from X-linked spinal and bulbar muscular atrophy
16. The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression
17. Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain
18. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
19. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
20. SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
21. The three-dimensional structure of apopain/CPP32, a key mediator of apoptosis
22. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1
23. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
24. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel