Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease-Reference-Cited by-同舟云学术

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Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease

Published:2011-10-12 Issue:1 Volume:18 Page:56-64
ISSN:1076-1551
Container-title:Molecular Medicine
language:en
Short-container-title:Mol Med

Author:

Gochuico Bernadette R.,Huizing Marjan,Golas Gretchen A.,Scher Charles D.,Tsokos Maria,Denver Stacey D.,Frei-Jones Melissa J.,Gahl William A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.2119/molmed.2011.00198.pdf

Reference38 articles.

1. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu. Rev. Genomics. Hum. Genet. 9:359–86.

2. Gahl WA, et al. (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 338:1258–64.

3. Brantly M, et al. (2000) 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. 117:129–36.

4. Gahl WA, et al. (2002) Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol. Genet. Metab. 76:234–42.

5. Nazarian R, Falcon-Pérez 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. U. S. A. 100:8770–5.

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