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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

Courtland, Jamie L, Bradshaw, Tyler WA, Waitt, Greg, Soderblom, Erik J, Ho, Tricia, Rajab, Anna, Vancini, Ricardo, Kim, Il Hwan, Soderling, Scott H·2021·eLife
DOI 10.7554/elife.61590

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Abstract

Mutation of the Wiskott–Aldrich syndrome protein and SCAR homology (WASH) complex subunit, SWIP, is implicated in human intellectual disability, but the cellular etiology of this association is unknown. We identify the neuronal WASH complex proteome, revealing a network of endosomal proteins. To uncover how dysfunction of endosomal SWIP leads to disease, we generate a mouse model of the human WASHC4 c.3056C>G mutation. Quantitative spatial proteomics analysis of SWIP P1019R mouse brain reveals that this mutation destabilizes the WASH complex and uncovers significant perturbations in both endosomal and lysosomal pathways. Cellular and histological analyses confirm that SWIP P1019R results in endo-lysosomal disruption and uncover indicators of neurodegeneration. We find that SWIP P1019R not only impacts cognition, but also causes significant progressive motor deficits in mice. A retrospective analysis of SWIP P1019R patients reveals similar movement deficits in humans. Combined, these findings support the model that WASH complex destabilization, resulting from SWIP P1019R , drives cognitive and motor impairments via endo-lysosomal dysfunction in the brain.

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Research works printed but not linked: 131

  1. Aldecoa, 2013, Surprise maximization reveals the community structure of complex networks, Scientific Reports, 3, 10.1038/srep01060 · DOI
  2. Alekhina, 2017, Cellular functions of WASP family proteins at a glance, Journal of Cell Science, 130, 2235, 10.1242/jcs.199570 · DOI
  3. Assoum, 2020, Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature, American Journal of Medical Genetics. Part A, 182, 792, 10.1002/ajmg.a.61487 · DOI · Paper page
  4. Barnett, 2006, Synaptic ras GTPase activating protein regulates pattern formation in the trigeminal system of mice, Journal of Neuroscience, 26, 1355, 10.1523/JNEUROSCI.3164-05.2006 · DOI
  5. Bartels, 2019, KDEL receptor 1 contributes to cell surface association of protein disulfide isomerases, Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 52, 850, 10.33594/000000059 · DOI
  6. Bates, 2015, Fitting linear mixed-effects models using lme4, Journal of Statistical Software, 64, 10.18637/jss.v067.i01 · DOI · Paper page
  7. Beare, 2009, Gait analysis in normal and spinal contused mice using the TreadScan system, Journal of Neurotrauma, 26, 2045, 10.1089/neu.2009.0914 · DOI
  8. Benjamini, 1995, Controlling the false discovery rate: a practical and powerful approach to multiple testing, Journal of the Royal Statistical Society: Series B, 57, 289, 10.1111/j.2517-6161.1995.tb02031.x · DOI · Paper page
  9. Binda, 2019, Sorting nexin 27 rescues neuroligin 2 from lysosomal degradation to control inhibitory synapse number, Biochemical Journal, 476, 293, 10.1042/BCJ20180504 · DOI · Paper page
  10. Blackstone, 2011, Hereditary spastic paraplegias: membrane traffic and the motor pathway, Nature Reviews Neuroscience, 12, 31, 10.1038/nrn2946 · DOI
  11. Boassa, 2013, Mapping the subcellular distribution of α-synuclein in neurons using genetically encoded probes for correlated light and electron microscopy: implications for parkinson's disease pathogenesis, Journal of Neuroscience, 33, 2605, 10.1523/JNEUROSCI.2898-12.2013 · DOI
  12. Boatright, 2003, Mechanisms of caspase activation, Current Opinion in Cell Biology, 15, 725, 10.1016/j.ceb.2003.10.009 · DOI
  13. Bodain, 1965, A suggestive relationship of nerve cell rna with specific synaptic sites, PNAS, 53, 418, 10.1073/pnas.53.2.418 · DOI
  14. Boles, 1995, The molecular basis of HEXA mRNA deficiency caused by the most common tay- Sachs disease mutation, American Journal of Human Genetics, 56, 716
  15. Breckels, 2016, A bioconductor workflow for processing and analysing spatial proteomics data, F1000Research, 5, 10.12688/f1000research.10411.1 · DOI
  16. Burre, 2010, -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro, Science, 329, 1663, 10.1126/science.1195227 · DOI
  17. Cai, 2016, Interplay of endoplasmic reticulum stress and autophagy in neurodegenerative disorders, Autophagy, 12, 225, 10.1080/15548627.2015.1121360 · DOI
  18. Calvo, 2016, MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins, Nucleic Acids Research, 44, D1251, 10.1093/nar/gkv1003 · DOI · Paper page
  19. Carnell, 2011, Actin polymerization driven by WASH causes V-ATPase retrieval and vesicle neutralization before exocytosis, Journal of Cell Biology, 193, 831, 10.1083/jcb.201009119 · DOI · Paper page
  20. Chen, 2019, Towards a molecular understanding of endosomal trafficking by retromer and retriever, Traffic, 20, 465, 10.1111/tra.12649 · DOI · Paper page
  21. Cheng, 2018, Characterization of LAMP1-labeled nondegradative lysosomal and endocytic compartments in neurons, Journal of Cell Biology, 217, 3127, 10.1083/jcb.201711083 · DOI · Paper page
  22. Chiu, 2017, GRASP1 regulates synaptic plasticity and learning through endosomal recycling of AMPA receptors, Neuron, 93, 1405, 10.1016/j.neuron.2017.02.031 · DOI · Paper page
  23. Connor-Robson, 2019, An integrated transcriptomics and proteomics analysis reveals functional endocytic dysregulation caused by mutations in LRRK2, Neurobiology of Disease, 127, 512, 10.1016/j.nbd.2019.04.005 · DOI
  24. Crook, 2018, A bayesian mixture modelling approach for spatial proteomics, PLOS Computational Biology, 14, 10.1371/journal.pcbi.1006516 · DOI
  25. Crook, 2019, A bioconductor workflow for the bayesian analysis of spatial proteomics, F1000Research, 8, 10.12688/f1000research.18636.1 · DOI
  26. Cullen, 2018, To degrade or not to degrade: mechanisms and significance of endocytic recycling, Nature Reviews Molecular Cell Biology, 19, 679, 10.1038/s41580-018-0053-7 · DOI · Paper page
  27. Davies, 2018, AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A, Nature Communications, 9, 10.1038/s41467-018-06172-7 · DOI
  28. de Bot, 2013, Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene, Journal of Neurology, 260, 1765, 10.1007/s00415-013-6870-x · DOI · Paper page
  29. Del Olmo, 2019, APEX2‐mediated RAB proximity labeling identifies a role for RAB21 in clathrin‐independent cargo sorting, EMBO Reports, 20, 10.15252/embr.201847192 · DOI
  30. Derivery, 2009, The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex, Developmental Cell, 17, 712, 10.1016/j.devcel.2009.09.010 · DOI · Paper page
  31. Derivery, 2010, Evolutionary conservation of the WASH complex, an actin polymerization machine involved in endosomal fission, Communicative & Integrative Biology, 3, 227, 10.4161/cib.3.3.11185 · DOI
  32. Dutta, 2016, Men and mice: relating their ages, Life Sciences, 152, 244, 10.1016/j.lfs.2015.10.025 · DOI · Paper page
  33. Edvardson, 2012, A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism, PLOS ONE, 7, 10.1371/journal.pone.0036458 · DOI
  34. Elliott, 2013, A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a first nations cohort, Journal of Medical Genetics, 50, 819, 10.1136/jmedgenet-2013-101715 · DOI · Paper page
  35. Eng, 1994, Molecular basis of fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene, Human Mutation, 3, 103, 10.1002/humu.1380030204 · DOI
  36. Farfán, 2013, A sorting nexin 17-binding domain within the LRP1 cytoplasmic tail mediates receptor recycling through the basolateral sorting endosome, Traffic, 14, 823, 10.1111/tra.12076 · DOI · Paper page
  37. Follett, 2014, The Vps35 D620N mutation linked to Parkinson's disease disrupts the cargo sorting function of retromer, Traffic, 15, 230, 10.1111/tra.12136 · DOI
  38. Follett, 2019, DNAJC13 pasn855ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1, Neuroscience Letters, 706, 114, 10.1016/j.neulet.2019.04.043 · DOI
  39. Freedman, 2007, Statistics
  40. Garcia-Huerta, 2016, ER chaperones in neurodegenerative disease: folding and beyond, Brain Research, 1648, 580, 10.1016/j.brainres.2016.04.070 · DOI
  41. Geladaki, 2019, Combining LOPIT with differential ultracentrifugation for high-resolution spatial proteomics, Nature Communications, 10, 10.1038/s41467-018-08191-w · DOI
  42. Giurgiu, 2019, CORUM: the comprehensive resource of mammalian protein complexes-2019, Nucleic Acids Research, 47, D559, 10.1093/nar/gky973 · DOI · Paper page
  43. Glascock, 2011, Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) Injection in mice, Journal of Visualized Experiments, 3, 10.3791/2968 · DOI · Paper page
  44. Gomez, 2012, Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks, Molecular Biology of the Cell, 23, 3215, 10.1091/mbc.e12-02-0101 · DOI · Paper page
  45. Gomez, 2009, A FAM21-containing WASH complex regulates retromer-dependent sorting, Developmental Cell, 17, 699, 10.1016/j.devcel.2009.09.009 · DOI · Paper page
  46. Goosens, 2001, Contextual and auditory fear conditioning are mediated by the lateral, basal, and central amygdaloid nuclei in rats, Learning & Memory, 8, 148, 10.1101/lm.37601 · DOI · Paper page
  47. Halff, 2019, SNX27-Mediated recycling of Neuroligin-2 regulates inhibitory signaling, Cell Reports, 29, 2599, 10.1016/j.celrep.2019.10.096 · DOI · Paper page
  48. Hallett, 2008, Biochemical fractionation of brain tissue for studies of receptor distribution and trafficking, Current Protocols in Neuroscience, Chapter 1, 10.1002/0471142301.ns0116s42 · DOI
  49. Harbour, 2012, Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35, Biochemical Journal, 442, 209, 10.1042/BJ20111761 · DOI · Paper page
  50. Hetz, 2017, ER stress and the unfolded protein response in neurodegeneration, Nature Reviews Neurology, 13, 477, 10.1038/nrneurol.2017.99 · DOI
  51. Hirst, 2018, Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval, PLOS Biology, 16, 10.1371/journal.pbio.2004411 · DOI
  52. Hochberg, 1988, A sharper bonferroni procedure for multiple tests of significance, Biometrika, 75, 800, 10.1093/biomet/75.4.800 · DOI · Paper page
  53. Huang, 2020, MSstatsTMT: statistical detection of differentially abundant proteins in experiments with isobaric labeling and multiple mixtures, Molecular & Cellular Proteomics, 19, 1706, 10.1074/mcp.RA120.002105 · DOI
  54. International Parkinsonism Genetics Network, 2013, Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism, Human Mutation, 34, 1208, 10.1002/humu.22373 · DOI
  55. Itzhak, 2016, Global, quantitative and dynamic mapping of protein subcellular localization, eLife, 5, 10.7554/eLife.16950 · DOI · Paper page
  56. Itzhak, 2017, A mass Spectrometry-Based approach for mapping protein subcellular localization reveals the spatial proteome of mouse primary neurons, Cell Reports, 20, 2706, 10.1016/j.celrep.2017.08.063 · DOI · Paper page
  57. Itzhak, 2019, Dynamic organellar maps for spatial proteomics, Current Protocols in Cell Biology, 83, 10.1002/cpcb.81 · DOI
  58. Jahic, 2015, The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8, Orphanet Journal of Rare Diseases, 10, 10.1186/s13023-015-0359-x · DOI · Paper page
  59. Jean Beltran, 2016, A portrait of the human organelle proteome in space and time during Cytomegalovirus infection, Cell Systems, 3, 361, 10.1016/j.cels.2016.08.012 · DOI
  60. Jia, 2010, WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes, PNAS, 107, 10442, 10.1073/pnas.0913293107 · DOI · Paper page
  61. Kim, 2016, An improved smaller biotin ligase for BioID proximity labeling, Molecular Biology of the Cell, 27, 1188, 10.1091/mbc.E15-12-0844 · DOI
  62. Kim, 2020, Crosstalk between HSPA5 arginylation and sequential ubiquitination leads to AKT degradation through autophagy flux, Autophagy, 17, 1, 10.1080/15548627.2020.1740529 · DOI
  63. Klaassen, 2016, Shisa6 traps AMPA receptors at Postsynaptic sites and prevents their desensitization during synaptic activity, Nature Communications, 7, 10.1038/ncomms10682 · DOI
  64. Kuznetsova, 2017, lmerTest Package: Tests in Linear Mixed Effects Models, Journal of Statistical Software, 82, 10.18637/jss.v082.i13 · DOI · Paper page
  65. Kvainickas, 2017, Cargo-selective SNX-BAR proteins mediate retromer trimer independent retrograde transport, Journal of Cell Biology, 216, 3677, 10.1083/jcb.201702137 · DOI · Paper page
  66. Lane, 2012, Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes, Journal of Neuroscience, 32, 14080, 10.1523/JNEUROSCI.3359-12.2012 · DOI
  67. Lee, 2005, Intravesicular localization and exocytosis of alpha-synuclein and its aggregates, Journal of Neuroscience, 25, 6016, 10.1523/JNEUROSCI.0692-05.2005 · DOI
  68. Lee, 2016, FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the golgi apparatus, Nature Communications, 7, 10.1038/ncomms10939 · DOI · Paper page
  69. Linardopoulou, 2007, Human subtelomeric WASH genes encode a new subclass of the WASP family, PLOS Genetics, 3, 10.1371/journal.pgen.0030237 · DOI
  70. López, 2015, HitPredict version 4: comprehensive reliability scoring of physical protein-protein interactions from more than 100 species, Database, 2015, 10.1093/database/bav117 · DOI
  71. Mann, 2015, Techniques for Motor Assessment in RodentsMovement Disorders: Genetics and Models
  72. Mao, 2015, Shank1 regulates excitatory synaptic transmission in mouse hippocampal parvalbumin-expressing inhibitory interneurons, European Journal of Neuroscience, 41, 1025, 10.1111/ejn.12877 · DOI · Paper page
  73. Maren, 2000, The Hippocampus and contextual memory retrieval in pavlovian conditioning, Behavioural Brain Research, 110, 97, 10.1016/S0166-4328(99)00188-6 · DOI · Paper page
  74. Maruzs, 2015, Retromer ensures the degradation of autophagic cargo by maintaining lysosome function in Drosophila, Traffic, 16, 1088, 10.1111/tra.12309 · DOI
  75. Mason, 2011, Bi-modal regulation of a formin by srGAP2, Journal of Biological Chemistry, 286, 6577, 10.1074/jbc.M110.190397 · DOI
  76. Mayor, 1993, Sorting of membrane components from endosomes and subsequent recycling to the cell surface occurs by a bulk flow process, Journal of Cell Biology, 121, 1257, 10.1083/jcb.121.6.1257 · DOI · Paper page
  77. Mok, 2003, Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase, Genomics, 81, 1, 10.1016/S0888-7543(02)00014-9 · DOI
  78. Monteiro, 2017, SHANK proteins: roles at the synapse and in autism spectrum disorder, Nature Reviews Neuroscience, 18, 147, 10.1038/nrn.2016.183 · DOI · Paper page
  79. Montibeller, 2018, Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) are characterised by differential activation of ER stress pathways: focus on UPR target genes, Cell Stress and Chaperones, 23, 897, 10.1007/s12192-018-0897-y · DOI
  80. Moon, 2016, Running-Induced systemic cathepsin B secretion is associated with memory function, Cell Metabolism, 24, 332, 10.1016/j.cmet.2016.05.025 · DOI · Paper page
  81. Moreno-García, 2018, An overview of the role of lipofuscin in Age-Related neurodegeneration, Frontiers in Neuroscience, 12, 10.3389/fnins.2018.00464 · DOI · Paper page
  82. Mukherjee, 2019, Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses, Molecular Neurodegeneration, 14, 10.1186/s13024-018-0300-6 · DOI
  83. Mulvey, 2017, Using hyperLOPIT to perform high-resolution mapping of the spatial proteome, Nature Protocols, 12, 1110, 10.1038/nprot.2017.026 · DOI
  84. Nagel, 2017, Drosophila WASH is required for integrin-mediated cell adhesion, cell motility and lysosomal neutralization, Journal of Cell Science, 130, 344, 10.1242/jcs.193086 · DOI · Paper page
  85. Orre, 2019, SubCellBarCode: proteome-wide mapping of protein localization and relocalization, Molecular Cell, 73, 166, 10.1016/j.molcel.2018.11.035 · DOI
  86. Pal, 2006, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease, Journal of Cell Biology, 172, 605, 10.1083/jcb.200509091 · DOI
  87. Pan, 2010, The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis, International Journal of Biological Sciences, 6, 163, 10.7150/ijbs.6.163 · DOI
  88. Phillips-Krawczak, 2015, COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A, Molecular Biology of the Cell, 26, 91, 10.1091/mbc.e14-06-1073 · DOI · Paper page
  89. Ping, 2018, Global quantitative analysis of the human brain proteome in Alzheimer's and Parkinson's Disease, Scientific Data, 5, 10.1038/sdata.2018.36 · DOI · Paper page
  90. Piotrowski, 2013, WASH knockout T cells demonstrate defective receptor trafficking, proliferation, and effector function, Molecular and Cellular Biology, 33, 958, 10.1128/MCB.01288-12 · DOI · Paper page
  91. Plubell, 2017, Extended multiplexing of tandem mass tags (TMT) Labeling reveals age and high fat diet specific proteome changes in mouse epididymal adipose tissue, Molecular & Cellular Proteomics, 16, 873, 10.1074/mcp.M116.065524 · DOI
  92. Poët, 2006, Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6, PNAS, 103, 13854, 10.1073/pnas.0606137103 · DOI
  93. Porter, 1999, Emerging roles of caspase-3 in apoptosis, Cell Death & Differentiation, 6, 99, 10.1038/sj.cdd.4400476 · DOI
  94. Pottier, 2016, Genetics of FTLD: overview and what else we can expect from genetic studies, Journal of Neurochemistry, 138, 32, 10.1111/jnc.13622 · DOI · Paper page
  95. Powell, 2005, Aggregates of oxidized proteins (lipofuscin) induce apoptosis through proteasome inhibition and dysregulation of proapoptotic proteins, Free Radical Biology and Medicine, 38, 1093, 10.1016/j.freeradbiomed.2005.01.003 · DOI
  96. Raiborg, 2015, Repeated ER-endosome contacts promote endosome translocation and neurite outgrowth, Nature, 520, 234, 10.1038/nature14359 · DOI
  97. Ramirez-Montealegre, 2005, Defective lysosomal arginine transport in juvenile batten disease, Human Molecular Genetics, 14, 3759, 10.1093/hmg/ddi406 · DOI
  98. Regier, 1993, GLB1-Related Disorders, GeneReviews
  99. Rodriguiz, 2006, Animal Models of Cognitive Impairment, 223, 10.1201/9781420004335.ch12 · DOI
  100. Ropers, 2011, Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP, Human Molecular Genetics, 20, 2585, 10.1093/hmg/ddr158 · DOI
  101. Rosenbaum, 2014, Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster, PLOS Genetics, 10, 10.1371/journal.pgen.1004349 · DOI
  102. Sáez, 2019, The exocyst controls lysosome secretion and antigen extraction at the immune synapse of B cells, Journal of Cell Biology, 218, 2247, 10.1083/jcb.201811131 · DOI
  103. Seaman, 2014, Analysis of the retromer complex-WASH complex interaction illuminates new avenues to explore in parkinson disease, Communicative & Integrative Biology, 7, 10.4161/cib.29483 · DOI
  104. Seshadri, 2010, Genome-wide analysis of genetic loci associated with alzheimer disease, Jama, 303, 1832, 10.1001/jama.2010.574 · DOI · Paper page
  105. Shin, 2019, Determining the content of vesicles captured by golgin tethers using LOPIT-DC, 10.1101/841965 · DOI
  106. Simonetti, 2017, Sequence-dependent cargo recognition by SNX-BARs mediates retromer-independent transport of CI-MPR, Journal of Cell Biology, 216, 3695, 10.1083/jcb.201703015 · DOI · Paper page
  107. Simonetti, 2019, Molecular identification of a BAR domain-containing coat complex for endosomal recycling of transmembrane proteins, Nature Cell Biology, 21, 1219, 10.1038/s41556-019-0393-3 · DOI · Paper page
  108. Simonetti, 2019, Actin-dependent endosomal receptor recycling, Current Opinion in Cell Biology, 56, 22, 10.1016/j.ceb.2018.08.006 · DOI · Paper page
  109. Simpson, 2004, A role for the small GTPase Rab21 in the early endocytic pathway, Journal of Cell Science, 117, 6297, 10.1242/jcs.01560 · DOI
  110. Slosarek, 2018, Pathogenic TFG mutations underlying hereditary spastic paraplegia impair secretory protein trafficking and axon fasciculation, Cell Reports, 24, 2248, 10.1016/j.celrep.2018.07.081 · DOI
  111. Smith, 2012, Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage, The American Journal of Human Genetics, 90, 1102, 10.1016/j.ajhg.2012.04.021 · DOI · Paper page
  112. Synofzik, 2014, Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration, The American Journal of Human Genetics, 95, 689, 10.1016/j.ajhg.2014.10.013 · DOI
  113. Tanaka, 2017, Progranulin regulates lysosomal function and biogenesis through acidification of lysosomes, Human Molecular Genetics, 26, 969, 10.1093/hmg/ddx011 · DOI
  114. Terman, 1998, Lipofuscin: mechanisms of formation and increase with age, Apmis, 106, 265, 10.1111/j.1699-0463.1998.tb01346.x · DOI · Paper page
  115. Traag, 2015, Detecting communities using asymptotical surprise, Physical Review E, 92, 10.1103/PhysRevE.92.022816 · DOI
  116. Traag, 2019, From louvain to Leiden: guaranteeing well-connected communities, Scientific Reports, 9, 1, 10.1038/s41598-019-41695-z · DOI · Paper page
  117. Uezu, 2016, Identification of an elaborate complex mediating postsynaptic inhibition, Science, 353, 1123, 10.1126/science.aag0821 · DOI · Paper page
  118. Valdez, 2017, Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients, Human Molecular Genetics, 26, 4861, 10.1093/hmg/ddx364 · DOI
  119. Valdmanis, 2007, Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia, The American Journal of Human Genetics, 80, 152, 10.1086/510782 · DOI · Paper page
  120. van der Beek, 2019, CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease, Journal of Cell Science, 132, 10.1242/jcs.189134 · DOI
  121. Vazdarjanova, 1998, Basolateral amygdala is not critical for cognitive memory of contextual fear conditioning, PNAS, 95, 15003, 10.1073/pnas.95.25.15003 · DOI · Paper page
  122. Wan, 2011, Sapap3 deletion causes mGluR5-dependent silencing of AMPAR synapses, Journal of Neuroscience, 31, 16685, 10.1523/JNEUROSCI.2533-11.2011 · DOI · Paper page
  123. Wang, 2014, Dysregulation of protein trafficking in neurodegeneration, Molecular Neurodegeneration, 9, 10.1186/1750-1326-9-31 · DOI · Paper page
  124. Wang, 2016, The ER stress regulator bip mediates cadmium-induced autophagy and neuronal senescence, Scientific Reports, 6, 10.1038/srep38091 · DOI
  125. Wang, 2018, Network enhancement as a general method to denoise weighted biological networks, Nature Communications, 9, 1, 10.1038/s41467-018-05469-x · DOI
  126. Ye, 2020, Retromer subunit, VPS29, regulates synaptic transmission and is required for endolysosomal function in the aging brain, eLife, 9, 10.7554/eLife.51977 · DOI · Paper page
  127. Yoshikawa, 2002, CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis, Genes to Cells, 7, 597, 10.1046/j.1365-2443.2002.00539.x · DOI
  128. Zech, 2011, The Arp2/3 activator WASH regulates α5β1-integrin-mediated invasive migration, Journal of Cell Science, 124, 3753, 10.1242/jcs.080986 · DOI · Paper page
  129. Zhang, 2019, The effect of age, sex and strains on the performance and outcome in animal models of stroke, Neurochemistry International, 127, 2, 10.1016/j.neuint.2018.10.005 · DOI
  130. Zhou, 2018, The interaction between progranulin with sortilin and the lysosome, Methods in Molecular Biology, 1806, 269, 10.1007/978-1-4939-8559-3_18 · DOI
  131. Zimprich, 2011, A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset parkinson disease, The American Journal of Human Genetics, 89, 168, 10.1016/j.ajhg.2011.06.008 · DOI · Paper page

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Metadata

Authors
Courtland, J. L., Bradshaw, T. W., Waitt, G., Soderblom, E. J., Ho, T., Rajab, A., Vancini, R., Kim, I. H., & Soderling, S. H.
Affiliations
  • Department of Neurobiology, Duke University School of Medicine, Durham, United States
  • Proteomics and Metabolomics Shared Resource, Duke University School of Medicine, Durham, United States
  • Burjeel Hospital, VPS Healthcare, Muscat, Oman
  • Department of Pathology, Duke University School of Medicine, Durham, United States
  • Department of Cell Biology, Duke University School of Medicine, Durham, United States
ORCID
Venue
eLife
Publisher
eLife Sciences Publications, Ltd
Published
2021-03-22
Volume
10
ISSN
2050-084X
DOI
10.7554/elife.61590
Cited by
49
References
24
Language
en
Licence
Funders
  • School of Medicine, Duke University (Translating Duke Health Neuroscience)
  • National Institute of Mental Health (MH111684, MH117429, MH117851)
  • National Institute on Drug Abuse (DA047258)
  • Brain and Behavior Research Foundation (NARSAD 25163)
  • National Institute of General Medical Sciences (GM007171)
  • National Institute of Neurological Disorders and Stroke (NS113738)

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