Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia 英文参考文献.docVIP

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Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia 英文参考文献.doc

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Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia 英文参考文献

EndoplasmicReticulumQualityControlIsInvolvedinthe MechanismofEndoglin-MediatedHereditary HaemorrhagicTelangiectasia BassamR.Ali1*,ImenBen-Rebeh1,AnneJohn1,NadiaA.Akawi1,RehamM.Milhem1,NoufA.Al-Shehhi1, MouzaM.Al-Ameri1,ShammaA.Al-Shamisi1,LihadhAl-Gazali2 1DepartmentofPathology,FacultyofMedicineandHealthSciences,UnitedArabEmiratesUniversity,Al-Ain,UnitedArabEmirates,2DepartmentsofPaediatrics,Faculty ofMedicineandHealthSciences,UnitedArabEmiratesUniversity,Al-Ain,UnitedArabEmirates Abstract Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic condition affecting the vascular system andischaracterisedbyepistaxis,arteriovenousmalformationsandmucocutaneousandgastrointestinaltelangiectases.This disorder affects approximately 1 in 8,000 people worldwide. Significant morbidity is associated with this condition in affectedindividuals,andanaemiacanbeaconsequenceofrepeatedhaemorrhagesfromtelangiectasiainthegutandnose. In the majority of the cases reported, the condition is caused by mutations in either ACVRL1 or endoglin genes, which encodecomponentsoftheTGF-betasignallingpathway.Numerousmissensemutationsinendoglinhavebeenreportedas causative defects for HHT but the exact underlying cellular mechanisms caused by these mutations have not been fully establisheddespitedatasupportingarolefortheendoplasmicreticulum(ER)qualitycontrolmachinery.Forthisreason,we examinedthesubcellulartraffickingoftwenty-fiveendoglindisease-causingmissensemutations.Themutantproteinswere expressed in HeLa and HEK293 cell lines, and their subcellular localizations were established by confocal fluorescence microscopyalongsidetheanalysisoftheirN-glycosylationprofiles.ERqualitycontrolwasfoundtoberesponsibleineight (L32R, V49F, C53R, V125D, A160D, P165L, I271N and A308D) out of eleven mutants located on the orphan extracellular domaininadditiontotwo(C363YandC382W)outofthirteenmutantsintheZonaPellucida(ZP)domain.Inaddition,a singleintracellulardomainmissensemutantwasexaminedandfound