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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
Author / Creator:Cox, Laura E ; Ferraiuolo, Laura ; Goodall, Emily F ; Heath, Paul R ; Higginbottom, Adrian ; Mortiboys, Heather ; Hollinger, Hannah C ; Hartley, Judith A ; Brockington, Alice ; Burness, Christine E ; Morrison, Karen E ; Wharton, Stephen B ; Grierson, Andrew J ; Ince, Paul G ; Kirby, Janine ; Shaw, Pamela J
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-03, Vol.5 (3), p.e9872-e9872
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Cortical Frontoparietal Network Dysfunction in CHMP2B -Frontotemporal Dementia
Author / Creator:Musaeus, Christian Sandøe ; Pedersen, Jette Stokholm ; Kjær, Troels Wesenberg ; Johannsen, Peter ; Waldemar, Gunhild ; Haverberg, Maria Joy Normann ; Bacher, Theis ; Nielsen, Jørgen Erik ; Roos, Peter
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in aging neuroscience, 2021-09, Vol.13, p.714220-714220
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Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Author / Creator:Clayton, Emma L. ; Mizielinska, Sarah ; Edgar, James R. ; Nielsen, Troels Tolstrup ; Marshall, Sarah ; Norona, Frances E. ; Robbins, Miranda ; Damirji, Hana ; Holm, Ida E. ; Johannsen, Peter ; Nielsen, Jørgen E. ; Asante, Emmanuel A. ; Collinge, John ; Isaacs, Adrian M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2015-10, Vol.130 (4), p.511-523
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The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization
Author / Creator:Alqabandi, Maryam ; de Franceschi, Nicola ; Maity, Sourav ; Miguet, Nolwenn ; Bally, Marta ; Roos, Wouter H ; Weissenhorn, Winfried ; Bassereau, Patricia ; Mangenot, Stéphanie
Publisher:England: BioMed Central Ltd
Journal title:BMC biology, 2021-04, Vol.19 (1), p.66-66, Article 66
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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Author / Creator:Skibinski, Gaia ; Parkinson, Nicholas J ; Brown, Jeremy M ; Chakrabarti, Lisa ; Lloyd, Sarah L ; Hummerich, Holger ; Nielsen, Jørgen E ; Hodges, John R ; Spillantini, Maria Grazia ; Thusgaard, Tove ; Brandner, Sebastian ; Brun, Arne ; Rossor, Martin N ; Gade, Anders ; Johannsen, Peter ; Sørensen, Sven Asger ; Gydesen, Susanne ; Fisher, Elizabeth MC ; Collinge, John
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-08, Vol.37 (8), p.806-808
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Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation
Author / Creator:Toft, Anders ; Roos, Peter ; Jääskeläinen, Olli ; Musaeus, Christian Sandøe ; Henriksen, Emil Elbæk ; Johannsen, Peter ; Nielsen, Troels Tolstrup ; Herukka, Sanna-Kaisa ; Hviid Simonsen, Anja ; Nielsen, Jørgen Erik
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Dementia and geriatric cognitive disorders, 2021-04, Vol.49 (6), p.533-538
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Modulating Golgi Stress Signaling Ameliorates Cell Morphological Phenotypes Induced by CHMP2B with Frontotemporal Dementia-Associated p.Asp148Tyr
Author / Creator:Fukatsu, Shoya ; Okawa, Maho ; Okabe, Miyu ; Cho, Mizuka ; Isogai, Mikinori ; Yokoi, Takanori ; Shirai, Remina ; Oizumi, Hiroaki ; Yamamoto, Masahiro ; Ohbuchi, Katsuya ; Miyamoto, Yuki ; Yamauchi, Junji
Publisher:Switzerland: MDPI AG
Journal title:Current issues in molecular biology, 2024-02, Vol.46 (2), p.1398-1412
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CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS
Author / Creator:Keeley, Olivia ; Mendoza, Emma ; Menon, Druv ; Coyne, Alyssa N
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2024-12, Vol.12 (1), p.199-25, Article 199
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A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review
Author / Creator:Li, Chang ; Wen, Ya ; Zhao, Mengqiu ; Wang, Yaye ; Li, Ping ; Wang, Liang ; Wang, Shan
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-08, Vol.11 (8), p.e2222-n/a
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Endo‐lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation
Author / Creator:Toft, Anders ; Sjödin, Simon ; Simonsen, Anja Hviid ; Ejlerskov, Patrick ; Roos, Peter ; Musaeus, Christian Sandøe ; Henriksen, Emil Elbæk ; Nielsen, Troels Tolstrup ; Brinkmalm, Ann ; Blennow, Kaj ; Zetterberg, Henrik ; Nielsen, Jørgen Erik
Publisher:United States: John Wiley & Sons, Inc
Journal title:Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2023-01, Vol.15 (1), p.e12402-n/a
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TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III
Author / Creator:Jun, Mi-Hee ; Han, Jeong-Ho ; Lee, Yu-Kyung ; Jang, Deok-Jin ; Kaang, Bong-Kiun ; Lee, Jin-A
Publisher:England: BioMed Central Ltd
Journal title:Molecular brain, 2015-12, Vol.8 (1), p.85, Article 85
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The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei
Author / Creator:Coyne, Alyssa N ; Rothstein, Jeffrey D
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2021-07, Vol.9 (1), p.127-127, Article 127
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Ik2/TBK1 and Hook/Dynein, an adaptor complex for early endosome transport, are genetic modifiers of FTD-associated mutant CHMP2B toxicity in Drosophila
Author / Creator:Lu, Yubing ; West, Ryan J. H. ; Pons, Marine ; Sweeney, Sean T. ; Gao, Fen-Biao
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-08, Vol.10 (1), p.14221, Article 14221
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The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias
Author / Creator:Chen, Yongping ; Krishnan, Gopinath ; Parsi, Sepideh ; Pons, Marine ; Nikolaki, Veroniki ; Cao, Lu ; Xu, Zuoshang ; Gao, Fen-Biao
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-11, Vol.10 (1), p.169-8, Article 169
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The ESCRT-III Isoforms CHMP2A And CHMP2B Display Different Effects On Membranes Upon Polymerization
Author / Creator:Alqabandi, Maryam ; de Franceschi, Nicola ; Miguet, Nolwenn ; Maity, Sourav ; Bally, Marta ; Roos, Wouter H ; Weissenhorn, Winfried ; Bassereau, Patricia ; Mangenot, Stéphanie
Publisher:BioMed Central
Journal title:BMC biology, 2019-09, Vol.19
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FTD/ALS Type 7-Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator
Author / Creator:Shirai, Remina ; Cho, Mizuka ; Isogai, Mikinori ; Fukatsu, Shoya ; Okabe, Miyu ; Okawa, Maho ; Miyamoto, Yuki ; Torii, Tomohiro ; Yamauchi, Junji
Publisher:Basel: MDPI AG
Journal title:Neurology international, 2023-08, Vol.15 (3), p.980-993
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Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia
Author / Creator:Ahmad, S. Tariq ; Sweeney, Sean T ; Lee, Jin -A ; Sweeney, Neal T ; Gao, Fen-Biao
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (29), p.12168-12173
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Expression of mutant CHMP2B linked to neurodegeneration in humans disrupts circadian rhythms in Drosophila
Author / Creator:Lee, DaWon ; Zheng, Xiaoyue ; Shigemori, Kay ; Krasniak, Christopher ; Bin Liu, Jie ; Tang, Chao ; Kavaler, Joshua ; Ahmad, S. Tariq
Publisher:United States: John Wiley & Sons, Inc
Journal title:FASEB bioAdvances, 2019-08, Vol.1 (8), p.511-520
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Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study
Author / Creator:Stokholm, Jette ; Teasdale, Thomas W ; Johannsen, Peter ; Nielsen, Jorgen E ; Nielsen, Troels Tolstrup ; Isaacs, Adrian ; Brown, Jerry M ; Gade, Anders
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2013-02, Vol.84 (2), p.170-176
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Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene
Author / Creator:Holm, Ida Elisabeth ; Isaacs, Adrian M. ; Mackenzie, Ian R. A.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2009-11, Vol.118 (5), p.719-720
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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)

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Cortical Frontoparietal Network Dysfunction in CHMP2B -Frontotemporal Dementia

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Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

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The ESCRT-III isoforms CHMP2A and CHMP2B display different effects on membranes upon polymerization

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

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Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation

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Modulating Golgi Stress Signaling Ameliorates Cell Morphological Phenotypes Induced by CHMP2B with Frontotemporal Dementia-Associated p.Asp148Tyr

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CHMP2B promotes CHMP7 mediated nuclear pore complex injury in sporadic ALS

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A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review

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Endo‐lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation

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TMEM106B, a frontotemporal lobar dementia (FTLD) modifier, associates with FTD-3-linked CHMP2B, a complex of ESCRT-III

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The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei

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Ik2/TBK1 and Hook/Dynein, an adaptor complex for early endosome transport, are genetic modifiers of FTD-associated mutant CHMP2B toxicity in Drosophila

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The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias

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The ESCRT-III Isoforms CHMP2A And CHMP2B Display Different Effects On Membranes Upon Polymerization

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FTD/ALS Type 7-Associated Thr104Asn Mutation of CHMP2B Blunts Neuronal Process Elongation, and Is Recovered by Knockdown of Arf4, the Golgi Stress Regulator

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Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia

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Expression of mutant CHMP2B linked to neurodegeneration in humans disrupts circadian rhythms in Drosophila

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Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study

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Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

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