糖基化修饰与功能

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1、ReviewSpecialIssue:TheMagicoftheSugarCodeCongenitaldisordersofglycosylation:aconcisechartofglycocalyxdysfunctionThierryHennetandJu¨rgCabalzarInstituteofPhysiology,UniversityofZurich,CH-8057Zurich,SwitzerlandGlycosylationisaubiquitousmodificationoflipidsandlaboratorytestsmaketh

2、erecognitionofCDGcaseschal-proteins.Despitetheessentialcontributionofglycocon-lenging.TheidentificationofCDGhaslongreliedonthejugatestotheviabilityofalllivingorganisms,diseasesofdetectionofunderglycosylatedserumtransferrinbyisoelec-glycosylationinhumanshaveonlybeenidentifiedove

3、rtricfocusing[5].Whileeasytoperformandrequiringonlyathepastfewdecades.Therecentdevelopmentofnext-fewmicrolitersofblood,thistestexclusivelyrevealsaltera-generationDNAsequencingtechniqueshasacceleratedtionsofN-glycosylation.Unfortunately,similarbloodteststhepaceofdiscoveryofnov

4、elglycosylationdefects.Thehavenotbeenestablishedtoreliablydiagnosedefectsindescriptionofmultiplemutationsacrossglycosylationotherclassesofglycosylation.ThesimplicityoftheserumpathwaysnotonlyrevealedtremendousdiversityintransferrintestalsoexplainswhydisordersofN-glycosyla-func

5、tionalimpairments,butalsopointedtophenotypictionaccountforthemajorityofknownCDG.similarities,emphasizingtheinterconnectedflowofRecentdevelopmentsingenome-wideDNAsequencingsubstratesunderlyingglycanassembly.Thecurrentlisttechnologyenabletheidentificationofmutationswithoutaof100k

6、nownglycosylationdisordersprovidesanover-prioriknowledgeofcandidategenes.Asinotherfieldsofviewofthesignificanceofglycosylationinhumande-biology,next-generationsequencingapproacheshavein-velopmentandphysiology.creasedthepaceofdiscoveryfornewtypesofCDG[6].Thebarrierof100genesdefe

7、ctsimpairingglycosylationGlycosylationdisordershasjustbeenpassed(seehttp://www.physiol.uzh.ch/Glycosylationisbyfarthemostcomplexformofprotein[1]Glycosylationforagraphicaloverview).Thesedefectsandlipidmodification[2,3]inalldomainsoflife.Theencompassnearlyallglycosylationpathway

8、sandaffecttremendousdiversityofglycoconjugatestructuresresult-differ