نتایج جستجو برای: proteins deficiency

تعداد نتایج: 681154  

Journal: :The Journal of clinical investigation 2010
Xiangjian Zheng Chong Xu Annarita Di Lorenzo Benjamin Kleaveland Zhiying Zou Christoph Seiler Mei Chen Lan Cheng Jiping Xiao Jie He Michael A Pack William C Sessa Mark L Kahn

Cerebral cavernous malformation is a common human vascular disease that arises due to loss-of-function mutations in genes encoding three intracellular adaptor proteins, cerebral cavernous malformations 1 protein (CCM1), CCM2, and CCM3. CCM1, CCM2, and CCM3 interact biochemically in a pathway required in endothelial cells during cardiovascular development in mice and zebrafish. The downstream ef...

2016
Ana Catarina Lunz Macedo Lourdes Isaac

The complement system plays an important role in the innate and acquired immune response against pathogens. It consists of more than 30 proteins found in soluble form or attached to cell membranes. Most complement proteins circulate in inactive forms and can be sequentially activated by the classical, alternative, or lectin pathways. Biological functions, such as opsonization, removal of apopto...

Journal: :Current Biology 2010
Swati Suryavanshi Bernard Eddé Laura A. Fox Stella Guerrero Robert Hard Todd Hennessey Amrita Kabi David Malison David Pennock Winfield S. Sale Dorota Wloga Jacek Gaertig

How microtubule-associated motor proteins are regulated is not well understood. A potential mechanism for spatial regulation of motor proteins is provided by posttranslational modifications of tubulin subunits that form patterns on microtubules. Glutamylation is a conserved tubulin modification [1] that is enriched in axonemes. The enzymes responsible for this posttranslational modification, gl...

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