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Two novel mutations of Wiskott - Aldrich syndrome: The molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling

DC Field Value Language
dc.contributor.author김동수-
dc.contributor.author신전수-
dc.contributor.author최인홍-
dc.date.accessioned2015-07-14T17:17:07Z-
dc.date.available2015-07-14T17:17:07Z-
dc.date.issued2004-
dc.identifier.issn0006-3002-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/112576-
dc.description.abstractWiskott–Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia. Herein, two novel mutations of WAS at T336C on exon 3, and at 1326–1329, a G deletion on exon 10, resulting in L101P missense mutation and frameshift mutation 444 stop, respectively, are reported. The affected patients with either mutation showed severe suppression of WAS protein (WASP) levels, T cell proliferation, and CFSE-labeled T cells division. Because WASP L101 have not shown direct nuclear Overhauser effect (NOE) contact with the WASP-interacting protein (WIP) in NMR spectroscopy, molecular modeling was performed to evaluate the molecular effect of WASP P101 to WIP peptide. It is presumed that P101 induced a conformational change in the Q99 residue of WASP and made the side chain of Q99 move away from the WIP peptide, resulting in disruption of the hydrogen bond between Q99 WASP and Y475 WIP. A possible model for the molecular pathogenesis of WAS has been proposed by analyzing the interactions of WASP and WIP using a molecular modeling study.-
dc.description.statementOfResponsibilityopen-
dc.format.extent134~140-
dc.relation.isPartOfBIOCHIMICA ET BIOPHYSICA ACTA-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHBase Sequence-
dc.subject.MESHCarrier Proteins/chemistry*-
dc.subject.MESHCarrier Proteins/genetics*-
dc.subject.MESHCell Division-
dc.subject.MESHChromosomes, Human, X-
dc.subject.MESHCytoskeletal Proteins-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHExons-
dc.subject.MESHFemale-
dc.subject.MESHFrameshift Mutation-
dc.subject.MESHGene Deletion-
dc.subject.MESHHumans-
dc.subject.MESHHydrogen Bonding-
dc.subject.MESHInosine Triphosphate/genetics-
dc.subject.MESHIntracellular Signaling Peptides and Proteins-
dc.subject.MESHMagnetic Resonance Spectroscopy-
dc.subject.MESHMale-
dc.subject.MESHModels, Molecular-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMutation*-
dc.subject.MESHMutation, Missense-
dc.subject.MESHPedigree-
dc.subject.MESHPeptides/chemistry-
dc.subject.MESHProtein Binding-
dc.subject.MESHProtein Conformation-
dc.subject.MESHProtein Structure, Tertiary-
dc.subject.MESHProteins/chemistry*-
dc.subject.MESHProteins/genetics*-
dc.subject.MESHSequence Homology, Amino Acid-
dc.subject.MESHT-Lymphocytes/metabolism-
dc.subject.MESHWiskott-Aldrich Syndrome/genetics*-
dc.subject.MESHWiskott-Aldrich Syndrome Protein-
dc.titleTwo novel mutations of Wiskott - Aldrich syndrome: The molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorMoon Kyu Kim-
dc.contributor.googleauthorEun Sook Kim-
dc.contributor.googleauthorJeon-Soo Shin-
dc.contributor.googleauthorChang No Yoon-
dc.contributor.googleauthorTaesung Moon-
dc.contributor.googleauthorIn-Hong Choi-
dc.contributor.googleauthorDong Soo Kim-
dc.identifier.doi10.1016/j.bbadis.2004.06.007-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.relation.journalcodeJ00287-
dc.identifier.eissn1878-2434-
dc.identifier.pmid15469902-
dc.subject.keywordWiskott–Aldrich syndrome (WAS)-
dc.subject.keywordWAS protein (WASP)-
dc.subject.keywordWASP-interacting protein (WIP)-
dc.subject.keywordMolecular modeling-
dc.contributor.alternativeNameKim, Dong Soo-
dc.contributor.alternativeNameShin, Jeon Soo-
dc.contributor.alternativeNameChoi, In Hong-
dc.rights.accessRightsfree-
dc.citation.volume1690-
dc.citation.number2-
dc.citation.startPage134-
dc.citation.endPage140-
dc.identifier.bibliographicCitationBIOCHIMICA ET BIOPHYSICA ACTA , Vol.1690(2) : 134-140, 2004-
dc.identifier.rimsid57754-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Microbiology (미생물학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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