2021
Impact of Calreticulin and Its Mutants on Endoplasmic Reticulum Function in Health and Disease
Arshad N, Cresswell P. Impact of Calreticulin and Its Mutants on Endoplasmic Reticulum Function in Health and Disease. Progress In Molecular And Subcellular Biology 2021, 59: 163-180. PMID: 34050866, DOI: 10.1007/978-3-030-67696-4_8.ChaptersConceptsEndoplasmic reticulumProtein quality control machineryER-resident protein calreticulinQuality control machineryKey cellular functionsAmino acid sequenceEndoplasmic reticulum functionLectin chaperonesCellular functionsControl machineryProtein interactionsTerminal domainER healthER functionAcid sequenceMutant calreticulinCell homeostasisProtein calreticulinProtein synthesisCalreticulinVital playersDramatic alterationsLipid metabolismBlood tumorsMutations
2012
Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation
Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation. New England Journal Of Medicine 2012, 366: 1586-1595. PMID: 22436048, DOI: 10.1056/nejmoa1110132.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane regulatorEntire candidate regionCandidate regionsExons of genesHEK293T cellsAffected family membersCyclic guanosine monophosphateSingle nucleotide polymorphismsBacterial heat-stable enterotoxinsFamily membersMutant receptorsChromosome 12GC-C signalingMutant GcRecessive mutationsLinkage analysisTransmembrane regulatorFunctional studiesMissense mutationsGenetic variantsHeterozygous missense mutationMutationsExome sequencingGUCY2C mutationGenes