2016
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Reports 2016, 31: 15-27. PMID: 27008195, PMCID: PMC5388645, DOI: 10.1007/8904_2016_548.Peer-Reviewed Original ResearchLysosomal storage disorderNeuronal ceroid lipofuscinosisBlood spotsDiagnostic testsConsideration of therapyStorage disorderStandard of careCommon lysosomal storage disorderMajor unmet needAccurate diagnostic testHigh consanguinity rateBlood sample transportationDried Blood SpotsIrreversible complicationsI-cell diseaseAffected patientsCostly therapiesTimely diagnosisMetabolic disordersMucopolysaccharidosis IIEconomical diagnostic testsUnmet needUtility of DBSDBS resultsSpecific biomarkers
1993
Granzymes A and B are targeted to the lytic granules of lymphocytes by the mannose-6-phosphate receptor.
Griffiths G, Isaaz S. Granzymes A and B are targeted to the lytic granules of lymphocytes by the mannose-6-phosphate receptor. Journal Of Cell Biology 1993, 120: 885-896. PMID: 8432729, PMCID: PMC2200067, DOI: 10.1083/jcb.120.4.885.Peer-Reviewed Original ResearchConceptsMan-6-PMannose-6-phosphateLytic granulesReceptor-independent pathwayI-cellEndo HEndoglycosidase H (endo HMan-6-P receptorSecretory rolePathway to lysosomesMannose-6-phosphate receptorMan-6-P residuesNormal cellsOligosaccharide side chainsGranzyme ACloned cytolytic T cell linesLysosomal proteinsGranule componentsI-cell diseaseLytic proteinsRadioactive phosphateEnzymatic substrateCytolytic T cell linesT cell linesCell fraction
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