Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease 英文参考文献.docVIP

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Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease 英文参考文献.doc

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Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease 英文参考文献

PrimaryCoenzymeQDeficiencyinPdss2MutantMice CausesIsolatedRenalDisease MinPeng1.,MarniJ.Falk2.,VolkerH.Haase3,RhondaKing3,ErzsebetPolyak2,MarySelak4 ,Marc Yudkoff5,WayneW.Hancock6,RayMeade7,RyoichiSaiki8,AdamL.Lunceford8,CatherineF.Clarke8, DavidL.Gasser1* 1DepartmentofGenetics,UniversityofPennsylvaniaSchoolofMedicine,Philadelphia,Pennsylvania,UnitedStatesofAmerica,2DepartmentofPediatrics,Divisionof Human Genetics, The Children’s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America, 3Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia,Pennsylvania,United States of America, 4Mitochondrial Research Laboratory, DepartmentofPediatrics,TheChildren’sHospitalofPhiladelphiaandUniversityofPennsylvaniaSchoolofMedicine,Philadelphia,Pennsylvania,UnitedStatesofAmerica, 5Department ofPediatrics,Division of Metabolism, Children’sHospitalofPhiladelphiaandUniversity ofPennsylvania School ofMedicine, Philadelphia, Pennsylvania, UnitedStatesofAmerica,6DepartmentofPathologyandLaboratoryMedicine,Children’sHospitalofPhiladelphiaandUniversityofPennsylvaniaSchoolofMedicine, Philadelphia,Pennsylvania,UnitedStatesofAmerica,7BiomedicalImagingCoreFacility,UniversityofPennsylvaniaSchoolofMedicine,Philadelphia,Pennsylvania,United StatesofAmerica,8DepartmentofChemistryandBiochemistry,UniversityofCaliforniaLosAngeles,LosAngeles,California,UnitedStatesofAmerica Abstract CoenzymeQ(CoQ)isanessentialelectroncarrierintherespiratorychainwhosedeficiencyhasbeenimplicatedinawide varietyofhumanmitochondrialdiseasemanifestations.Itsmulti-stepbiosynthesisinvolvesproductionofpolyisoprenoid diphosphateinareactionthatrequirestheenzymesbeencodedbyPDSS1andPDSS2.Homozygousmutationsineitherof thesegenes,inhumans,leadtosevereneuromusculardisease,withnephroticsyndromeseeninPDSS2deficiency.Wenow showthatapresumedautoimmunekidneydiseaseinmicewiththemissensePdss2kd/kd genotypecanbeattributedtoa mitochond