The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

Human Molecular Genetics

Volumn 11, Issue 7, 2002, Pages 823-831

  van der Spuy, Jacqueline ^a   Chapple, J Paul ^a   Clark, Brian J ^a   Luthert, Philip J ^a   Sethi, Charanjit S ^a   Cheetham, Michael E ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AROMATIC HYDROCARBON RECEPTOR; GENE PRODUCT; PEPTIDE; POLYCLONAL ANTIBODY;

ADULT; ARTICLE; BLINDNESS; CELL IMMORTALIZATION; CELL LINE; CELL SPECIFICITY; CONTROLLED STUDY; GENE FUNCTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEBER CONGENITAL AMAUROSIS; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN INTERACTION; RETINA DYSTROPHY; RETINA ROD; RETINOBLASTOMA; TISSUE SPECIFICITY; VISUAL IMPAIRMENT;

PRIMATES;

EID: 0036537524     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.7.823     Document Type: Article

References (47)

1. Ueber Retinitis pigmentosa and angeborene Amaurose
2. Rubeole pendant la grossese et cataracte congenitale chez l'enfant: Accompagne du phenomene digito-oculaire
3. Classification of congenital and early onset retinitis pigmentosa
4. A syndrome of congenital retinal dystrophy and saccade palsy-A subset of Leber's amaurosis
5. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis
6. Heredo-retinopathia congenitalis monohybrida recessiva autosomalis
7. A gene for Leber's congenital amaurosis maps to chromosome 17p
8. Evidence of genetic heterogeneity of Leber congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
9. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
10. Leber Congenital Amaurosis
11. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3
12. Mutations in RPE65 cause Leber's congenital amaurosis
13. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
14. RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes
15. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis (LCA)
16. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
17. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
18. Crx, a novel Otx-like paired homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
19. Mutations in the CRB1 gene cause Leber congenital amaurosis
20. Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
21. Null RPGRIP1 alleles in patients with Leber congenital amaurosis
22. Mutations in a new photoreceptor-pineal expressed gene on 17p cause Leber Congenital amaurosis
23. The tetratricopeptide repeat: A structural motif mediating protein-protein interactions
24. A novel cytoplasmic protein that interacts with the Ah receptor, contains tetratricopeptide repeat motifs, and augments the transcriptional response to 2,3,7,8-tetrachlorodibenzo-p-dioxin
25. Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo
26. XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation
27. Hepatitis B virus X-associated protein 2 is a subunit of the unliganded aryl hydrocarbon receptor core complex and exhibits transcriptional enhancer activity
28. Characterization of the AhR-hsp90-XAP2 core complex and the role of the immunophilin-related protein XAP2 in AhR stabilization
29. Subcellular localization of the aryl hydrocarbon receptor is modulated by the immunophilin homolog hepatitis B virus X-associated protein 2
30. The immunophilin-like protein XAP2 regulates ubiquitination and subcellular localization of the dioxin receptor
31. Aryl hydrocarbon (Ah) receptor levels are selectively modulated by hsp90-associated immunophilin homolog XAP2
32. Unfolding retinal dystrophies: A role for molecular chaperones?
33. The golden age of retinal culture
34. Rod-cone interactions: Developmental and clinical significance
35. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
36. Dominant cone-rod dystrophy caused by mutations of the retinal guanylate cyclase (retGC-1) gene
37. A retGC-1 mutation in autosomal dominant cone-rod dystrophy
38. Prevalence of AIPL1 mutations in inherited retinal degenerative disease
39. Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans
40. Aetiology of keratoconus
41. Keratoconus
42. A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13
43. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
44. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
45. Eczema and keratoconus
46. The importance of being proline: The interaction of proline-rich motifs in signalling proteins with their cognate domains
47. Characteristics of an established cell line of human retinoblastoma