TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2889-2898

  Nellist, M ^a   Verhaaf, B ^a   Goedbloed, M A ^a   Reuser, A J J ^a   Van den Ouweland, A M W ^a   Halley, D J J ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HAMARTIN; TUBERIN;

ANIMAL CELL; ARTICLE; COMPLEX FORMATION; CONTROLLED STUDY; MISSENSE MUTATION; MONKEY; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

ANIMALIA;

EID: 0035660247     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.25.2889     Document Type: Article

References (20)

1. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
2. Identification and characterization of the tuberous sclerosis gene on chromosome 16
3. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
4. Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene
5. The Drosophila tuberous sclerosis complex gene homologs restrict growth and cell proliferation
6. Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size
7. TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
8. Characterization of the cytosolic tuberin-hamartin complex
9. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
10. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles
11. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
12. Tuberin phosphorylation regulates its interaction with hamartin: Two proteins involved in tuberous sclerosis
13. Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene
14. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
15. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
16. Superiority of denaturing high performance liquid chromatography over single-stranded confromation and conformation-sensitive gel electrophoresis for mutation detection in TSC2
17. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
18. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis