Article
Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome.
American journal of physiology. Lung cellular and molecular physiology - 1 Feb 2010
Osanai Kazuhiro, Higuchi Junko, Oikawa Rieko, Kobayashi Makoto, Tsuchihara Katsuma, Iguchi Masaharu, Huang Jyongsu, Voelker Dennis R, Toga Hirohisa
Abstract excerpt
Several Long-Evans rat substrains carrying the phenotype of oculocutaneous albinism and bleeding diathesis are a rat model of Hermansky-Pudlak syndrome (HPS). The mutation responsible for the phenotype (Ruby) was identified as a point mutation in the initiation codon of Rab38 small GTPase that regulates intracellular vesicle transport. As patients with HPS often develop life-limiting interstitial pneumonia...
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