5iu9
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5iu9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5iu9 OCA], [http://pdbe.org/5iu9 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5iu9 RCSB], [http://www.ebi.ac.uk/pdbsum/5iu9 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5iu9 ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5iu9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5iu9 OCA], [http://pdbe.org/5iu9 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5iu9 RCSB], [http://www.ebi.ac.uk/pdbsum/5iu9 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5iu9 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| + | <div style="background-color:#fffaf0;"> | ||
| + | == Publication Abstract from PubMed == | ||
| + | Non-clustered delta-protocadherins are homophilic cell adhesion molecules essential for the development of the vertebrate nervous system, as several are closely linked to neurodevelopmental disorders. Mutations in protocadherin-19 (PCDH19) result in a female-limited, infant-onset form of epilepsy (PCDH19-FE). Over 100 mutations in PCDH19 have been identified in patients with PCDH19-FE, about half of which are missense mutations in the adhesive extracellular domain. Neither the mechanism of homophilic adhesion by PCDH19, nor the biochemical effects of missense mutations are understood. Here we present a crystallographic structure of the minimal adhesive fragment of the zebrafish Pcdh19 extracellular domain. This structure reveals the adhesive interface for Pcdh19, which is broadly relevant to both non-clustered delta and clustered protocadherin subfamilies. In addition, we show that several PCDH19-FE missense mutations localize to the adhesive interface and abolish Pcdh19 adhesion in in vitro assays, thus revealing the biochemical basis of their pathogenic effects during brain development. | ||
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| + | Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.,Cooper SR, Jontes JD, Sotomayor M Elife. 2016 Oct 26;5. doi: 10.7554/eLife.18529. PMID:27787195<ref>PMID:27787195</ref> | ||
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| + | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
| + | </div> | ||
| + | <div class="pdbe-citations 5iu9" style="background-color:#fffaf0;"></div> | ||
| + | == References == | ||
| + | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
Revision as of 18:59, 1 August 2018
Crystal Structure of Zebrafish Protocadherin-19 EC1-4
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