LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner-Reference-Cited by-同舟云学术

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Published:2013-11-13 Issue:7 Volume:23 Page:1856-1868
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Ohkawara Bisei,Cabrera-Serrano Macarena,Nakata Tomohiko,Milone Margherita,Asai Nobuyuki,Ito Kenyu,Ito Mikako,Masuda Akio,Ito Yasutomo,Engel Andrew G.,Ohno Kinji

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/7/1856/

Reference44 articles.

1. Current status of the congenital myasthenic syndromes;Engel;Neuromuscul. Disord.,2012

2. Lrp4 is a receptor for agrin and forms a complex with MuSK;Kim;Cell,2008

3. LRP4 serves as a coreceptor of agrin;Zhang;Neuron,2008

4. Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK);Zhang;J. Biol. Chem.,2011

5. To build a synapse: signaling pathways in neuromuscular junction assembly;Wu;Development,2010

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