نتایج جستجو برای: hexosaminidase a

تعداد نتایج: 13431949  

Journal: :Human molecular genetics 1997
J Q Huang J M Trasler S Igdoura J Michaud N Hanal R A Gravel

Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease. We previously developed mouse models of both disease...

2012
Ilja Striz Eva Brabcova Katerina Petrickova Libor Kolesar Eliska Thorburn Marcela Jaresova Alena Sekerkova Miroslav Petricek

rendered background IgE levels only. In accordance, sera of OVA mice which permitted mast cell degranulation upon OVA trigger in a specific b-hexosaminidase release assay, whereas sera of OVA-AAVLP mice did not contain anaphylactogenic antibodies. In an in vivo anaphylaxis experiment, upon intravenous OVA challenge OVA-immunized mice presented significant drop of body temperature, whereas AAVLP...

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