Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hermansky-Pudlak syndrome 2 is an autosomal recessive disorder caused by mutations of the AP3B1 gene. It is characterized by oculocutaneous albinism, bleeding disorder and, in some cases, pulmonary fibrosis or granulomatous colitis.
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Kotzot D et al. (1994) Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 
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| 2. |
Dell'Angelica EC et al. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
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| 3. |
Huizing M et al. (2002) Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
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| 4. |
Clark RH et al. (2003) Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.
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| 5. |
Jung J et al. (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
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| 6. |
Enders A et al. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
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| 7. |
None (1999) Multi-organellar disorders of pigmentation: tied up in traffic.
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| 8. |
Sugita M et al. (2002) Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells.
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| 9. |
Fontana S et al. (2006) Innate immunity defects in Hermansky-Pudlak type 2 syndrome.
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