Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Skibinski, Gaia, Parkinson, Nicholas J, Brown, Jeremy M, Chakrabarti, Lisa, Lloyd, Sarah L, Hummerich, Holger, Nielsen, Jørgen E, Hodges, John R +11 more·2005·Nature Genetics

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  1. Melanosome transfer: it is best to give and receive
    Xufeng Wu, John A. Hammer · 2014 · Current Opinion in Cell Biology
  2. The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum
    Tim Van Langenhove, Julie van der Zee, Christine Van Broeckhoven · 2012 · Annals of Medicine
  3. ALS: A bucket of genes, environment, metabolism and unknown ingredients
    Mónica Zufiría, Francisco Javier Gil-Bea, Roberto Fernández‐Torrón, Juan José Poza, José Luís Muñoz-Blanco, Ricard Rojas‐García, Javier Riancho, Adolfo López de Munaín · 2016 · Progress in Neurobiology
  4. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
    Mario Masellis, Parastoo Momeni, Wendy S. Meschino, Reid Russell Heffner, J. Elder, Christine Sato, Yuh‐Jin Liang, Peter St George‐Hyslop, John Hardy, J. M. Bilbao et al. · 2006 · Brain
  5. Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases
    Felix Geser, Maria Martinez‐Lage, Linda K. Kwong, Virginia M.‐Y. Lee, John Q. Trojanowski · 2009 · Journal of Neurology
  6. Autophagy and ALS: mechanistic insights and therapeutic implications
    Chua, Jason P., De Calbiac, Hortense, Kabashi, Edor, Barmada, Sami J. · 2022 · Autophagy
  7. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
    Hazel Urwin, Astrid Authier, Jørgen Erik Nielsen, Daniel J. Metcalf, Caroline Powell, Kristina E. Froud, Denise S. Malcolm, Ida E. Holm, Peter Johannsen, Jeremy M. Brown et al. · 2010 · Human Molecular Genetics
  8. Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia
    Eduardo Gascon, Kelleen Lynch, Hongyu Ruan, Sandra Almeida, Jamie M. Verheyden, William W. Seeley, Dennis W. Dickson, Leonard Petrucelli, Danqiong Sun, Jian Jiao et al. · 2014 · Nature Medicine
  9. Frontotemporal dementia: latest evidence and clinical implications
    Juan Joseph Young, Mallika Lavakumar, Deena J. Tampi, Silpa Balachandran, Rajesh R. Tampi · 2017 · Therapeutic Advances in Psychopharmacology
  10. Mammalian macroautophagy at a glance
    Brinda Ravikumar, Marie Futter, Luca Jahreiss, Viktor I. Korolchuk, Maike Lichtenberg, Shouqing Luo, Dunecan C. O. Massey, Fiona M. Menzies, Usha Narayanan, Maurizio Renna et al. · 2009 · Journal of Cell Science
  11. Prominent phenotypic variability associated with mutations in Progranulin
    Brendan J. Kelley, Wael N. Haidar, Bradley F. Boeve, Matt C. Baker, Neill R. Graff‐Radford, Thomas A. Krefft, Andrew R. Frank, Clifford R. Jack, Maria S. Shiung, David S. Knopman et al. · 2007 · Neurobiology of Aging
  12. Autophagic and endo-lysosomal dysfunction in neurodegenerative disease
    Bilal R. Malik, Daniel C. Maddison, Gaynor Ann Smith, Owen M. Peters · 2019 · Molecular Brain
  13. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia
    Ber, I. L., Guedj, E., Gabelle, A., Verpillat, P., Volteau, M., Thomas-Anterion, C., Decousus, M., Hannequin, D., Vera, P., Lacomblez, L. et al. · 2006 · Brain
  14. Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases
    Dennis Velakoulis, Mark Walterfang, Ramon Mocellin, Christos Pantelis, Catriona McLean · 2009 · The British Journal of Psychiatry
  15. Autophagy and Neuronal Cell Death in Neurological Disorders
    Ralph A. Nixon, D.-S. Yang · 2012 · Cold Spring Harbor Perspectives in Biology
  16. Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia
    Lall, Deepti, Baloh, Robert H. · 2017 · Journal of Clinical Investigation
  17. Autophagic dysfunction in mucolipidosis type IV patients
    Silvia Vergarajauregui, Patricia S. Connelly, Mathew P. Daniels, Rosa Puertollano · 2008 · Human Molecular Genetics
  18. Compromised function of the ESCRT pathway promotes endolysosomal escape of tau seeds and propagation of tau aggregation
    Chen, John J., Nathaniel, Diane L., Raghavan, Preethi, Nelson, Maxine, Tian, Ruilin, Tse, Eric, Hong, Jason Y., See, Stephanie K., Mok, Sue-Ann, Hein, Marco Y. et al. · 2019 · Journal of Biological Chemistry
  19. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
    van der Zee, Julie, Urwin, Hazel, Engelborghs, Sebastiaan, Bruyland, Marc, Vandenberghe, Rik, Dermaut, Bart, De Pooter, Tim, Peeters, Karin, Santens, Patrick, De Deyn, Peter P. et al. · 2008 · Human Molecular Genetics
  20. Autophagosome biogenesis comes out of the black box
    Chunmei Chang, Liv E. Jensen, James H. Hurley · 2021 · Nature Cell Biology
  21. Frontotemporal dementia and related disorders: Deciphering the enigma
    Josephs, Keith A. · 2008 · Annals of Neurology
  22. Genetics of sporadic amyotrophic lateral sclerosis
    Jennifer C. Schymick, Kevin Talbot, Bryan J. Traynor · 2007 · Human Molecular Genetics
  23. Progranulin null mutations in both sporadic and familial frontotemporal dementia
    Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck et al. · 2007 · Human Mutation
  24. Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration
    Christina M. Lang, Katrin Fellerer, Benjamin M. Schwenk, Peer‐Hendrik Kuhn, Elisabeth Kremmer, Dieter Edbauer, Anja Capell, Christian Haass · 2012 · Journal of Biological Chemistry
  25. Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice
    Zoe A. Klein, Hideyuki Takahashi, Mengxiao Ma, Massimiliano Stagi, Melissa S. Zhou, TuKiet T. Lam, Stephen M. Strittmatter · 2017 · Neuron
  26. Proteolytic processing of TAR DNA binding protein‐43 by caspases produces C‐terminal fragments with disease defining properties independent of progranulin
    Dorothee Dormann, Anja Capell, Aaron M. Carlson, Sunita S. Shankaran, Ramona Rodde, Manuela Neumann, Elisabeth Kremmer, Takashi Matsuwaki, Keitaro Yamanouchi, Masugi Nishihara et al. · 2009 · Journal of Neurochemistry
  27. Two genetic pathways, t(1;10) and amplification of 3p11–12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions
    Karolin H. Nord, Raf Sciot, Johan Staaf, Markus Heidenblad, Anders Rydholm, Henrik C. F. Bauer, Kristina Åström, Henryk A. Domanski, Jeanne M. Meis, Lars‐Gunnar Kindblom et al. · 2009 · The Journal of Pathology
  28. Amyotrophic Lateral Sclerosis: From Current Developments in the Laboratory to Clinical Implications
    Cozzolino, Mauro, Ferri, Alberto, Teresa Carrì, Maria · 2008 · Antioxidants & Redox Signaling
  29. Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype
    David M. A. Mann, Julie S. Snowden · 2017 · Brain Pathology
  30. The clinical spectrum of sporadic and familial forms of frontotemporal dementia
    Ione Woollacott, Jonathan Daniel Rohrer · 2016 · Journal of Neurochemistry
  31. Membrane trafficking in health and disease
    Rebecca Yarwood, John Hellicar, Philip G. Woodman, Martin Lowe · 2020 · Disease Models & Mechanisms
  32. Frontotemporal Dementia: Implications for Understanding Alzheimer Disease
    Michel Goedert, Bernardino Francesco Ghetti, M. G. Spillantini · 2011 · Cold Spring Harbor Perspectives in Medicine
  33. Genetics of <scp>FTLD</scp> : overview and what else we can expect from genetic studies
    Pottier, Cyril, Ravenscroft, Thomas A., Sanchez‐Contreras, Monica, Rademakers, Rosa · 2016 · Journal of Neurochemistry
  34. Invited Review: The role of prion‐like mechanisms in neurodegenerative diseases
    Zane Jaunmuktane, Sebastian Brandner · 2019 · Neuropathology and Applied Neurobiology
  35. Molecular and Cellular Mechanisms Affected in ALS
    Laura Le Gall, Ekene Anakor, Owen Connolly, Udaya Geetha Vijayakumar, William John Duddy, Stéphanie Duguez · 2020 · Journal of Personalized Medicine
  36. Review: neuropathology of non-tau frontotemporal lobar degeneration
    Neumann, M., Mackenzie, I. R. A. · 2019 · Neuropathology and Applied Neurobiology
  37. Progranulin: normal function and role in neurodegeneration
    Eriksen, Jason L., Mackenzie, Ian R. A. · 2008 · Journal of Neurochemistry
  38. Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS
    Coyne, Alyssa N., Baskerville, Victoria, Zaepfel, Benjamin L., Dickson, Dennis W., Rigo, Frank, Bennett, Frank, Lusk, C. Patrick, Rothstein, Jeffrey D. · 2021 · Science Translational Medicine
  39. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
    Michael D. Gallagher, EunRan R. Suh, Murray Grossman, Lauren B. Elman, Leo F. McCluskey, John Cornelis Van Swieten, Safa Al‐Sarraj, Manuela Neumann, Ellen Gelpí, Bernardino Francesco Ghetti et al. · 2014 · Acta Neuropathologica
  40. Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations
    Zhang, Zhijun, Almeida, Sandra, Lu, Yubing, Nishimura, Agnes L., Peng, Lingtao, Sun, Danqiong, Wu, Bei, Karydas, Anna M., Tartaglia, Maria C., Fong, Jamie C. et al. · 2013 · PLoS ONE
  41. Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation
    Chang, Michael C., Srinivasan, Karpagam, Friedman, Brad A., Suto, Eric, Modrusan, Zora, Lee, Wyne P., Kaminker, Joshua S., Hansen, David V., Sheng, Morgan · 2017 · Journal of Experimental Medicine
  42. Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration
    Elisabeth McCarty Wood, Dana Falcone, EunRan R. Suh, David John Irwin, Alice S. Chen‐Plotkin, Edward B. Lee, Sharon Xiangwen Xie, Vivianna M. Van Deerlin, Murray Grossman · 2013 · JAMA Neurology
  43. Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy
    Jeong-Sun Ju, Conrad Chris Weihl · 2010 · Human Molecular Genetics
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    Jeong-Sun Ju, Sara Miller, Phyllis I. Hanson, Conrad C. Weihl · 2008 · Journal of Biological Chemistry
  45. ALS and FTLD: two faces of TDP‐43 proteinopathy
    Rajka M. Liščić, Lea T. Grinberg, Janez Zidar, Michael A. Gitcho, Nigel J. Cairns · 2008 · European Journal of Neurology
  46. Autophagy and misfolded proteins in neurodegeneration
    Metcalf, Daniel J., García-Arencibia, Moisés, Hochfeld, Warren E., Rubinsztein, David C. · 2012 · Experimental Neurology
  47. Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease
    Chitramuthu, Babykumari P, Bennett, Hugh P J, Bateman, Andrew · 2017 · Brain
  48. Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects
    Almeida, Sandra, Zhang, Zhijun, Coppola, Giovanni, Mao, Wenjie, Futai, Kensuke, Karydas, Anna, Geschwind, Michael D., Tartaglia, M. Carmela, Gao, Fuying, Gianni, Davide et al. · 2012 · Cell Reports
  49. Spongiform Neurodegeneration-associated E3 Ligase Mahogunin Ubiquitylates TSG101 and Regulates Endosomal Trafficking
    Bong Yoon Kim, James A. Olzmann, Gregory S. Barsh, Lih‐Shen Chin, Lian Li · 2007 · Molecular Biology of the Cell
  50. A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3
    Ida E. Holm, Elisabet M. Englund, Ian R. Mackenzie, Peter Johannsen, Adrian M. Isaacs · 2007 · Journal of Neuropathology & Experimental Neurology
  51. Frontotemporal Dementia, Where Do We Stand? A Narrative Review
    Annibale Antonioni, Emanuela Maria Raho, Piervito Lopriore, Antonia Pia Pace, Raffaela Rita Latino, Martina Assogna, Michelangelo Mancuso, Daniela Gragnaniello, Enrico Granieri, Maura Pugliatti et al. · 2023 · International Journal of Molecular Sciences
  52. Parkin-mediated ubiquitin signalling in aggresome formation and autophagy
    Lih‐Shen Chin, James A. Olzmann, Lian Li · 2010 · Biochemical Society Transactions
  53. Superoxide Dismutase 1 and tgSOD1G93A Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis
    Ruth Chia, M. Howard Tattum, Samantha Jones, John Collinge, Elizabeth Fisher, Graham S. Jackson · 2010 · PLoS ONE
  54. Cytoplasmic accumulation and aggregation of TDP-43 upon proteasome inhibition in cultured neurons.
    van Eersel, Janet, Ke, Yazi D., Gladbach, Amadeus, Bi, Mian, Götz, Jürgen, Kril, Jillian J., Ittner, Lars M. · 2011 · PLoS ONE
  55. Progranulin promotes neurite outgrowth and neuronal differentiation by regulating GSK-3β
    Xue Gao, Alvin P. Joselin, Lei Wang, Amar N. Kar, Payal Ray, Andrew Bateman, Alison Goate, Jane Y. Wu · 2010 · Protein & Cell
  56. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
    Leverenz, J. B., Yu, C. E., Montine, T. J., Steinbart, E., Bekris, L. M., Zabetian, C., Kwong, L. K., Lee, V. M-Y., Schellenberg, G. D., Bird, T. D. · 2007 · Brain
  57. Protein misfolding disorders and macroautophagy
    Menzies, Fiona M, Moreau, Kevin, Rubinsztein, David C · 2011 · Current Opinion in Cell Biology
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  62. Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching
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  63. TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
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    Frank J.A. Dennissen, Natalia Kholod, Fred W. van Leeuwen · 2012 · Progress in Neurobiology
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  73. TDP-43: an emerging new player in neurodegenerative diseases
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  74. Autophagy in Drosophila melanogaster
    Christina S. Kary, Eric H. Baehrecke · 2009 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  75. UBAP1 Is a Component of an Endosome-Specific ESCRT-I Complex that Is Essential for MVB Sorting
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  76. Loss of progranulin function in frontotemporal lobar degeneration
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  78. The Coiled-Coil Protein Shrub Controls Neuronal Morphogenesis in Drosophila
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  79. Potential Contribution of Exosomes to the Prion-Like Propagation of Lesions in Alzheimer’s Disease
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  81. Frontotemporal Dementias
    Elizabeth C. Finger · 2016 · CONTINUUM Lifelong Learning in Neurology
  82. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
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  84. ESCRT-III mediates budding across the inner nuclear membrane and regulates its integrity
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  85. Cytoplasmic dynein in neurodegeneration
    Judith Eschbach, Luc Dupuis · 2011 · Pharmacology & Therapeutics
  86. Frontotemporal lobar degeneration: current perspectives
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  87. Charged Multivesicular Body Protein 2B (CHMP2B) of the Endosomal Sorting Complex Required for Transport-III (ESCRT-III) Polymerizes into Helical Structures Deforming the Plasma Membrane
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  88. Degradation and Transmission of Tau by Autophagic-Endolysosomal Networks and Potential Therapeutic Targets for Tauopathy
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  89. The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
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  90. Fighting disease by selective autophagy of aggregate‐prone proteins
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  91. Protein folding alterations in amyotrophic lateral sclerosis
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  92. Autophagy as a common pathway in amyotrophic lateral sclerosis
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  97. Survival in progressive supranuclear palsy and frontotemporal dementia
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