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   AP3B1base
   Variation registry for  Hermansky-Pudlak syndrome 2


AP3B1base mutation publications

[2010] [2006] [2003] [2002] [1999] [1994]

Search PubMed latest citations for AP3B1 mutations

    2010

  • Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.
    Wenham M, Grieve S, Cummins M, Jones ML, Booth S, Kilner R, Ancliff PJ, Griffiths GM, Mumford AD
    Haematologica 2010(2): 333-7 [PubMed abstract].

    2006

  • Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
    Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S
    Blood 2006(1): 81-7 [PubMed abstract].

  • Innate immunity defects in Hermansky-Pudlak type 2 syndrome.
    Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo LD, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths GM, Moretta A, Notarangelo LD, Badolato R
    Blood 2006(12): 4857-64 [PubMed abstract].

  • Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
    Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C
    Blood 2006(1): 362-9 [PubMed abstract].

    2003

  • Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.
    Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies EG, Griffiths GM
    Nat Immunol 2003(11): 1111-20 [PubMed abstract].

    2002

  • Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
    Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA
    Pediatr Res 2002(2): 150-8 [PubMed abstract].

    1999

  • Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
    Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS
    Mol Cell 1999(1): 11-21 [PubMed abstract].

    1994

  • Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
    Kotzot D, Richter K, Gierth-Fiebig K
    Am J Med Genet 1994(3): 224-7 [PubMed abstract].