نتایج جستجو برای: pudlak syndrome

تعداد نتایج: 621943  

Journal: :Neuron 1998
Prameela Kantheti Xiaoxi Qiao Maria E Diaz Andrew A Peden Gary E Meyer Shannon L Carskadon David Kapfhamer Damaris Sufalko Margaret S Robinson Jeffrey L Noebels Margit Burmeister

The mouse mutant mocha, a model for the Hermansky-Pudlak storage pool deficiency syndrome, is characterized by defective platelets, coat and eye color dilution, lysosomal abnormalities, inner ear degeneration, and neurological deficits. Here, we show that mocha is a null allele of the delta subunit of the adaptor-like protein complex AP-3, which is associated with coated vesicles budding from t...

Journal: :Immunity 2002
Masahiko Sugita Xiaochun Cao Gerald F M Watts Rick A Rogers Juan S Bonifacino Michael B Brenner

Endocytosed microbial antigens are primarily delivered to lysosomal compartments where antigen binding to MHC and CD1 molecules occurs in an acidic and proteolytically active environment. Signal-dependent delivery to lysosomes has been suggested for these antigen-presenting molecules, but molecular interactions with vesicular coat proteins and adaptors that direct their lysosomal sorting are po...

2010
Valeria P. Martinez Carla M. Bellomo María Luisa Cacace Paola Suárez Liliana Bogni Paula J. Padula

We report a large case series of hantavirus pulmonary syndrome (HPS) in Argentina that was confirmed by laboratory results from 1995 through 2008. The geographic and temporal distribution of cases by age, sex, fatality rate, and risk factors for HPS was analyzed. A total of 710 cases were unequally distributed among 4 of the 5 Argentine regions. Different case-fatality rates were observed for e...

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