Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

Pediatric Research

Volumn 51, Issue 2, 2002, Pages 150-158

  Huizing, Marjan ^a   Scher, Charles D ^a   Strovel, Erin ^a   Fitzpatrick, Diana L ^a   Hartnell, Lisa M ^a   Anikster, Yair ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; GENE PRODUCT; GRANULOCYTE COLONY STIMULATING FACTOR; MEMBRANE PROTEIN; PROTEIN SUBUNIT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; EXON; GENE MUTATION; HUMAN; INTRON; LYSOSOME; MALE; MELANOSOME; NONSENSE MUTATION; OCULAR ALBINISM; PRIORITY JOURNAL; PUERTO RICO; TRANS GOLGI NETWORK;

EID: 0036157244     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200202000-00006     Document Type: Article

References (41)

1. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
2. Albinism
3. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
4. Hermansky-Pudlak syndrome: Models for intracellular vesicle formation
5. Hermansky-Pudlak syndrome and related disorders of organelle formation
6. Platelet dense granules: Structure, function and implications for haemostasis
7. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
8. Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
9. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
10. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene
11. Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene
12. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes
13. Albinism and Hermansky-Pudlak syndrome in Puerto Rico
14. Mouse models of Hermansky Pudlak syndrome: A review
15. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice
16. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
17. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron
18. Hermansky-Pudlak syndrome and pale ear: Melanosome-making for the millennium
19. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor
20. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
21. β3A-adaptin, a subunit of the adaptor-like complex AP-3
22. Coat proteins and vesicle budding
23. Association of the AP-3 adaptor complex with clathrin
24. Characterization of the adaptor-related protein complex, AP-3
25. Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains
26. A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosine mediates selective binding of AP-3
27. The β3A subunit gene (Ap3bl) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
28. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
29. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
30. Genomic structure of the mouse Ap3bl gene in normal and pearl mice
31. Molecular cloning and characterization of an antigen associated with early stages of melanoma tumor progression
32. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin
33. Intracellular trafficking of lysosomal membrane proteins
34. Melanosomes are specialized members of the lysosomal lineage of organelles
35. Nonsense-mediated mRNA decay in health and disease
36. Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin
37. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
38. AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
39. Defective organellar membrane protein trafficking in Ap3bl-deficient cells
40. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?