2016
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann N, Niethammer K, Fuchs S, Eckl K, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths G, Lehmberg K, Hennies H, Ehl S. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 2016, 127: 997-1006. PMID: 26744459, PMCID: PMC7611501, DOI: 10.1182/blood-2015-09-671636.Peer-Reviewed Original ResearchConceptsAdaptor protein 3Hermansky-Pudlak syndromeTransport of lysosome-related organellesAssociated with albinismAdaptor protein-3 complexLysosome-related organellesHermansky-PudlakWhole-exome sequencingPlatelet storage pool deficiencyPatient T cellsLack of bleedingStorage pool deficiencyExome sequencingNull mutationMouse mutantsNeurodevelopmental delaySevere neurological disordersT cellsAP3D1Impaired hearingNeurological phenotypeNeurological symptomsHeterogeneous diseaseHomozygous mutationMutations
2014
The Biogenesis of Lysosomes and Lysosome-Related Organelles
Luzio J, Hackmann Y, Dieckmann N, Griffiths G. The Biogenesis of Lysosomes and Lysosome-Related Organelles. Cold Spring Harbor Perspectives In Biology 2014, 6: a016840. PMID: 25183830, PMCID: PMC4142962, DOI: 10.1101/cshperspect.a016840.Peer-Reviewed Original Research
2013
Arf-like GTPase Arl8b regulates lytic granule polarization and natural killer cell–mediated cytotoxicity
Tuli A, Thiery J, James A, Michelet X, Sharma M, Garg S, Sanborn K, Orange J, Lieberman J, Brenner M. Arf-like GTPase Arl8b regulates lytic granule polarization and natural killer cell–mediated cytotoxicity. Molecular Biology Of The Cell 2013, 24: 3721-3735. PMID: 24088571, PMCID: PMC3842998, DOI: 10.1091/mbc.e13-05-0259.Peer-Reviewed Original ResearchConceptsLysosome-related organellesMicrotubule-organizing centerImmune synapseKinesin-1Lytic granulesPolarization of lytic granulesGTP-binding proteinsPull-down approachMovement of lysosomesGranule polarizationLytic granule polarizationKinesin family member 5BNatural killer cell-mediated cytotoxicityNK cell lysatesFormation of immune synapseADP-ribosylationTripartite complexArl8bTarget cell membraneInteraction partnersAnterograde movementCell lysatesTarget cellsMember 5BCell membrane
2005
Normal Lytic Granule Secretion by Cytotoxic T Lymphocytes Deficient in BLOC‐1, ‐2 and ‐3 and Myosins Va, VIIa and XV
Bossi G, Booth S, Clark R, Davis E, Liesner R, Richards K, Starcevic M, Stinchcombe J, Trambas C, Dell'Angelica E, Griffiths G. Normal Lytic Granule Secretion by Cytotoxic T Lymphocytes Deficient in BLOC‐1, ‐2 and ‐3 and Myosins Va, VIIa and XV. Traffic 2005, 6: 243-251. PMID: 15702992, DOI: 10.1111/j.1600-0854.2005.00264.x.Peer-Reviewed Original ResearchConceptsCytotoxic T lymphocytesBLOC-1Mouse model of Hermansky-Pudlak syndromeModel of Hermansky-Pudlak syndromeT lymphocytesLysosome-related organellesLytic granule secretionCytotoxic T lymphocyte functionPale ear miceUnconventional myosinBLOC-3Protein machineryBLOC-2Myosin VaSecretory lysosomesSecretory organellesAP-3Ruby-eyeHermansky-Pudlak syndromeDisplay defectsHPS patientsGranule secretionPlatelet functionSandy miceMouse model
2004
Linking Albinism and Immunity: The Secrets of Secretory Lysosomes
Stinchcombe J, Bossi G, Griffiths G. Linking Albinism and Immunity: The Secrets of Secretory Lysosomes. Science 2004, 305: 55-59. PMID: 15232098, DOI: 10.1126/science.1095291.Peer-Reviewed Original ResearchMeSH KeywordsAlbinismAnimalsExocytosisHumansImmune SystemImmunologic Deficiency SyndromesLysosomesMelaninsMelanocytesMelanosomesMembrane GlycoproteinsMicrotubule-Organizing CenterMutationNeuronsPerforinPore Forming Cytotoxic ProteinsProteinsrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsSyndromeT-Lymphocytes, CytotoxicConceptsLysosome-related organellesMembrane-bound organellesCell typesSecretory lysosomesSecretory proteinsMammalian cellsLysosomal secretionSecrete melaninLysosomesOrganellesProteinSecretory mechanismCellsEffector functionsImmune systemAlbinismExocytosisSecretionHydrolaseEffectorExternal stimuliMembrane degradationMelanosomesLipaseImmunity
2002
The leaden Gene Product Is Required with Rab27a to Recruit Myosin Va to Melanosomes in Melanocytes
Hume A, Collinson L, Hopkins C, Strom M, Barral D, Bossi G, Griffiths G, Seabra M. The leaden Gene Product Is Required with Rab27a to Recruit Myosin Va to Melanosomes in Melanocytes. Traffic 2002, 3: 193-202. PMID: 11886590, DOI: 10.1034/j.1600-0854.2002.030305.x.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCell NucleusCells, CulturedImmunoblottingMelanocytesMelanosomesMiceMice, Inbred BALB CMice, Inbred C3HMice, Inbred C57BLMicroscopy, ElectronMicroscopy, FluorescenceMutationMyosin Type VProtein BiosynthesisProteinsrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsReverse Transcriptase Polymerase Chain ReactionSpleenSyndromeT-Lymphocytes, CytotoxicConceptsGene productsMyosin VaClasses of effector proteinsFunction of lysosome-related organellesLytic granulesPeripheral actin networkLysosome-related organellesLoss of function mutationsLocalized to melanosomesCytotoxic T lymphocytesTips of melanocyte dendritesGriscelli syndromeEffector proteinsActin networkPerinuclear clusteringT lymphocytesRab27aFunction mutationsImmunological synapseMyosinMelanocyte dendritesPromote recruitmentMelanosomesKill target cellsReduced levels
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