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The Intracranial Aneurysm Gene THSD1 Connects Endosome Dynamics to Nascent Focal Adhesion Assembly
Author(s) -
YanNing Rui,
Zhen Xu,
Xiaoqian Fang,
Miriam R. Menezes,
Julien Balzeau,
Airu Niu,
John P. Hagan,
Dong Kim
Publication year - 2017
Publication title -
cellular physiology and biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.486
H-Index - 87
eISSN - 1421-9778
pISSN - 1015-8987
DOI - 10.1159/000484298
Subject(s) - focal adhesion , vinculin , microbiology and biotechnology , endosome , endocytosis , biology , cell adhesion , integrin , signal transduction , intracellular , cell , biochemistry
We recently discovered that harmful variants in THSD1 (Thrombospondin type-1 domain-containing protein 1) likely cause intracranial aneurysm and subarachnoid hemorrhage in a subset of both familial and sporadic patients with supporting evidence from two vertebrate models. The current study seeks to elucidate how THSD1 and patient-identified variants function molecularly in focal adhesions.

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