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Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome, 203300 AP-3 adaptor complex P3A subunit... [Pg.512]

Fig. 3. Predicted alternative splicing in HPS (Hermansky-Pudlak Syndrome). The HPS polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and is apparently crucial for their normal development and function. We demonstrated an putative alternate transcript of the HPS gene. By RT-PCR, two transcripts were found in normal human brain, kidney, liver, lung, pancreas, and placenta. The short transcript (AA700609, length 302 bp) shows a deletion of 521 bp in the 3 UTR region of the HPS gene. Fig. 3. Predicted alternative splicing in HPS (Hermansky-Pudlak Syndrome). The HPS polypeptide is a novel transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and is apparently crucial for their normal development and function. We demonstrated an putative alternate transcript of the HPS gene. By RT-PCR, two transcripts were found in normal human brain, kidney, liver, lung, pancreas, and placenta. The short transcript (AA700609, length 302 bp) shows a deletion of 521 bp in the 3 UTR region of the HPS gene.
DTNBP1, isoform 1 or A 4) Dysbindin-1A 5) Hermansky-Pudlak Syndrome 7 (HPS7) homolog [17328]... [Pg.114]

Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, et al. 2003. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood 101 4402-4407. [Pg.223]

Di Pietro SM, Dell Angelica EC. 2005. The cell biology of Hermansky-Pudlak syndrome Recent advances. Traffic 6 ... [Pg.224]

Di Pitero SM, Falcon-Perez JM, Dell Angelica EC. 2004. Characterization of BLOC-2, a complex containing Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 5 276-283. [Pg.224]

Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, et al. 2000. Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3 dependent mechanism. Blood 96 4227-4235. [Pg.226]

Huizing M, Anikster Y, Gahl WA. 2000. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 1 823-835. [Pg.228]

Li W, Zhang Q, Oiso N, Novak EK, Gautam R, et al. 2003. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lyso-some-related organelles complex 1 (BLOC-1). Nat Genet... [Pg.230]

Martina JA, Moriyama K, Bonifacino JS. 2003. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPSl and HPS4. J Biol Chem 278 29376-29384. [Pg.231]

Nazarian R, Falcon-Perez JM, Dell Angelica EC. 2003. Biogenesis of lysosome-related organelles complex 3 (BLOC-3) A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 100 8770-8775. [Pg.232]

Nguyen T, Novak EK, Kermani M, Fluhr J, Peters LL, et al. 2002. Melanosome morphologies in murine models of Hermansky-Pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119 1156-1164. [Pg.233]

Nguyen T, Wei ML. 2004. Characterization ofmelanosomes in Hermansky-Pudlak syndrome Mechanisms of hypopig-mentation. J Invest Dermatol 122 452-460. [Pg.233]

Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. 1998. Mouse models of Hermansky Pudlak syndrome A review. Pigment Cell Res 11 60-80. [Pg.238]

Wei ML. 2006. Hermansky-Pudlak syndrome A disease of protein trafficking and organelle function. Pigment Cell Res 19 19-42. [Pg.240]

Hermansky-Pudlak syndrome (disorders of lysosomal biogenesis)... [Pg.954]

Identiflcation of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky-Pudlak syndrome. /oo(/77 101-112,1991. [Pg.223]

Another group of diseases with perturbed BH4 metaholism in human epidermis are skin disorders, including vitiligo and the Hermansky—Pudlak syndrome. Although the etiology for these disorders is not yet known, both involve lowered PCD/DCoH activities concomitant with 6- and 7-biopterin and H2O2 accumulation in skin, tyrosinase inhibition, and abnormal melanin biosynthesis. ... [Pg.628]

Insq3 1932507 Hermansky-Pudlak syndrome 3 2153839 HSPs involved in lysosomal production dysfunction of islet lysosomal system [21], [85]... [Pg.31]

Feng, L, Novak, EK, Hartnell, LM, Bonifacino, JS, Collinson, LM, and Swank, RT, The Hermansky-Pudlak syndrome 1 (hpsl) and hps2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysos-omes. Blood, 2002. 99(5) 1651-1658. [Pg.35]

Hermansky-Pudlak syndrome Tuberous sclerosis Neurofibromatosis Familial pulmonary fibrosis Other... [Pg.2]

Brantly M, Avila NA, Shotelersuk V, et al. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000 117(1) 129-136. [Pg.357]

Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002 76(3) 234—242. [Pg.363]

See other pages where Hermansky-Pudlak syndrome is mentioned: [Pg.309]    [Pg.176]    [Pg.357]    [Pg.6]    [Pg.55]    [Pg.84]    [Pg.338]    [Pg.351]   
See also in sourсe #XX -- [ Pg.512 ]

See also in sourсe #XX -- [ Pg.176 , Pg.177 ]

See also in sourсe #XX -- [ Pg.55 ]



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