Shankopathies: Shank Protein Deficiency-Induced Synaptic Diseases

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Tác giả: Thomas Bourgeron, Elodie Ey, Kihoon Han, Eunjoon Kim, Tobias Maria Boeckers

Ngôn ngữ: eng

ISBN-13: 978-2889635672

Ký hiệu phân loại:

Thông tin xuất bản: Frontiers Media SA, 2020

Mô tả vật lý: 1 electronic resource (231 p.)

Bộ sưu tập: Tài liệu truy cập mở

ID: 236038

Shank (also known as ProSAP) is a family of postsynaptic scaffolding proteins that are thought to be involved in the regulation of excitatory synapse development, function, and plasticity. The Shank family contains three known members (Shank1, Shank2, and Shank3). These proteins are equipped with various domains for protein-protein interactions known to mediate direct and indirect interactions with many other synaptic proteins, including glutamate receptors, other synaptic scaffolding proteins, and signaling molecules. Importantly, Shank has been implicated in diverse neuropsychiatric disorders, including autism spectrum disorders, schizophrenia, and Phelan-McDermid syndrome, a form of developmental delay and intellectual disability. The mechanisms underlying these abnormalities, collectively termed "Shankopathies," are being actively investigated, although overall progress has been slow for many reasons.
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