Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis

Activation of the Notch Signaling Pathway and Cellular Localization of Notch Signaling Molecules in the Spinal Cord of SOD1-G93A ALS Model Mice

(2020) Chong Liu et al.   NEUROSCIENCE

Human ESCRT-III polymers assemble on positively curved membranes and induce helical membrane tube formation

(2020) Aurélie Bertin et al.   Nature Communications

Protein Aggregation and Dysfunction of Autophagy-Lysosomal Pathway: A Vicious Cycle in Lysosomal Storage Diseases

(2020) Antonio Monaco et al.   Frontiers in Molecular Neuroscience

Retrovirus reactivation in CHMP2BIntron5 models of frontotemporal dementia

(2020) Laura Fort-Aznar et al.   HUMAN MOLECULAR GENETICS

Neuroprotective activity of ursodeoxycholic acid in CHMP2B models of frontotemporal dementia

(2020) Ryan J.H. West et al.   NEUROBIOLOGY OF DISEASE

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

(2020) Yubing Lu et al.   Scientific Reports

The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls

(2019) Camille Petillon et al.   Frontiers in Neuroscience

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

(2019) Katja Burk et al.   ACTA NEUROPATHOLOGICA

Notch Signalling in the Hippocampus of Patients With Motor Neuron Disease

(2019) Ulises Gómez-Pinedo et al.   Frontiers in Neuroscience

Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial

(2019) Julian Gold et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Impact of Autophagy and Aging on Iron Load and Ferritin in Drosophila Brain

(2019) Anne-Claire Jacomin et al.   Frontiers in Cell and Developmental Biology

Expression of a human variant of CHMP2B linked to neurodegeneration in Drosophila external sensory organs leads to cell fate transformations associated with increased Notch activity

(2019) Caroline Wilson et al.   Developmental Neurobiology

Compromised function of the ESCRT pathway promotes endolysosomal escape of tau seeds and propagation of tau aggregation

(2019) John J. Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

(2019) Jenna M Gregory et al.   JOURNAL OF PATHOLOGY

Clinical features and dysfunctions of iron metabolism in Parkinson disease patients with hyper echogenicity in substantia nigra: a cross-sectional study

(2018) Shu-yang Yu et al.   BMC Neurology

The pro-apoptotic JNK scaffold POSH/SH3RF1 mediates CHMP2BIntron5-associated toxicity in animal models of frontotemporal dementia

(2018) Ryan J H West et al.   HUMAN MOLECULAR GENETICS

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis

(2018) Priyam Narain et al.   NEUROBIOLOGY OF AGING

The role of ESCRT during development and functioning of the nervous system

(2018) Rémy Sadoul et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease

(2018) Simon M. Bell et al.   JOURNAL OF MOLECULAR BIOLOGY

Astrocyte-derived Jagged-1 mitigates deleterious Notch signaling in amyotrophic lateral sclerosis

(2018) Annelies Nonneman et al.   NEUROBIOLOGY OF DISEASE

Inflammation in ALS/FTD pathogenesis

(2018) Madelyn E. McCauley et al.   ACTA NEUROPATHOLOGICA

Non-transferrin-bound iron transporters

(2018) Mitchell D. Knutson   FREE RADICAL BIOLOGY AND MEDICINE

Mechanisms of AMPA Receptor Endosomal Sorting

(2018) Gabrielle T. Parkinson et al.   Frontiers in Molecular Neuroscience

Endocytosis regulates TDP-43 toxicity and turnover

(2017) Guangbo Liu et al.   Nature Communications

Human Endogenous Retrovirus-K and TDP-43 Expression Bridges ALS and HIV Neuropathology

(2017) Renée N. Douville et al.   Frontiers in Microbiology

Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B

(2017) Yu Zhang et al.   Stem Cell Reports

Coiled-coils: The long and short of it

(2016) Linda Truebestein et al.   BIOESSAYS

The role of CHMP2BIntron5 in autophagy and frontotemporal dementia

(2016) Christopher S. Krasniak et al.   BRAIN RESEARCH

The ESCRT machinery: new roles at new holes

(2016) Y Olmos et al.   CURRENT OPINION IN CELL BIOLOGY

A transgenic mouse expressing CHMP2Bintron5mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Aurélia Vernay et al.   HUMAN MOLECULAR GENETICS

ALIX and ESCRT-I/II function as parallel ESCRT-III recruiters in cytokinetic abscission

(2016) Liliane Christ et al.   JOURNAL OF CELL BIOLOGY

Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria

(2016) Benjamin Richter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms linking circadian clocks, sleep, and neurodegeneration

(2016) Erik S. Musiek et al.   SCIENCE

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

(2015) Emma L. Clayton et al.   ACTA NEUROPATHOLOGICA

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

(2015) Dejun Yang et al.   ACTA NEUROPATHOLOGICA

Sensitive detection of lysosomal membrane permeabilization by lysosomal galectin puncta assay

(2015) Sonja Aits et al.   Autophagy

Rab8, POSH, and TAK1 regulate synaptic growth in aDrosophilamodel of frontotemporal dementia

(2015) Ryan J.H. West et al.   JOURNAL OF CELL BIOLOGY

Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B

(2015) R. Chassefeyre et al.   JOURNAL OF NEUROSCIENCE

UDCA exerts beneficial effect on mitochondrial dysfunction inLRRK2G2019Scarriers and in vivo

(2015) Heather Mortiboys et al.   NEUROLOGY

Notch pathway is activated in cell culture and mouse models of mutant SOD1-related familial amyotrophic lateral sclerosis, with suppression of its activation as an additional mechanism of neuroprotection for lithium and valproate

(2015) S.-Y. Wang et al.   NEUROSCIENCE

Human endogenous retrovirus-K contributes to motor neuron disease

(2015) Wenxue Li et al.   Science Translational Medicine

Roles of ESCRT in autophagy-associated neurodegeneration

(2014) Jin-A Lee et al.   Autophagy

ESCRT Function in Cytokinesis: Location, Dynamics and Regulation by Mitotic Kinases

(2014) Musab Bhutta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Iron dysregulation in Huntington's disease

(2014) Michelle Muller et al.   JOURNAL OF NEUROCHEMISTRY

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia

(2014) Eduardo Gascon et al.   NATURE MEDICINE

'The clocks that time us'—circadian rhythms in neurodegenerative disorders

(2014) Aleksandar Videnovic et al.   Nature Reviews Neurology

The machinery of macroautophagy

(2013) Yuchen Feng et al.   CELL RESEARCH

Autophagy sequesters damaged lysosomes to control lysosomal biogenesis and kidney injury

(2013) Ikuko Maejima et al.   EMBO JOURNAL

Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila

(2013) Abigael Cheruiyot et al.   FASEB JOURNAL

Syntaxin 13, a Genetic Modifier of Mutant CHMP2B in Frontotemporal Dementia, Is Required for Autophagosome Maturation

(2013) Yubing Lu et al.   MOLECULAR CELL

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway

(2012) Jeong-Ho Han et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

The ESCRT machinery

(2012) Oliver Schmidt et al.   CURRENT BIOLOGY

Differential requirements of mammalian ESCRTs in multivesicular body formation, virus budding and cell division

(2012) Eiji Morita   FEBS Journal

Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference

(2012) Troels Tolstrup Nielsen et al.   JOURNAL OF GENE MEDICINE

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

(2012) Marka van Blitterswijk et al.   PLoS One

Structural Basis for Microtubule Binding and Release by Dynein

(2012) W. B. Redwine et al.   SCIENCE

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2011) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

ESCRT Machinery and Cytokinesis: the Road to Daughter Cell Separation

(2011) Anna Caballe et al.   TRAFFIC

Ursodeoxycholic acid modulates the ubiquitin-proteasome degradation pathway of p53

(2010) Joana D. Amaral et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines

(2010) A. Belly et al.   JOURNAL OF CELL SCIENCE

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

(2010) Mustapha Ghanim et al.   JOURNAL OF NEUROLOGY

AMPA receptor-mediated neuronal death in sporadic ALS

(2010) Shin Kwak et al.   NEUROPATHOLOGY

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

Identification of casein kinase-1 phosphorylation sites on TDP-43

(2009) Fuyuki Kametani et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structure and function of ESCRT-III: Table 1

(2009) Suman Lata et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The ESCRT machinery: new functions in viral and cellular biology

(2009) Jeremy G. Carlton et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Exploring the functional interaction between POSH and ALIX and the relevance to HIV-1 release

(2009) Jörg Votteler et al.   BMC BIOCHEMISTRY

How do ESCRT proteins control autophagy?

(2009) T. E. Rusten et al.   JOURNAL OF CELL SCIENCE

Inhibition of Autophagy Induction Delays Neuronal Cell Loss Caused by Dysfunctional ESCRT-III in Frontotemporal Dementia

(2009) J.-A Lee et al.   JOURNAL OF NEUROSCIENCE

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

(2009) S. T. Ahmad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

Lysosomes in iron metabolism, ageing and apoptosis

(2008) Tino Kurz et al.   HISTOCHEMISTRY AND CELL BIOLOGY

A Transcriptome Database for Astrocytes, Neurons, and Oligodendrocytes: A New Resource for Understanding Brain Development and Function

(2008) J. D. Cahoy et al.   JOURNAL OF NEUROSCIENCE

Quantification of reverse transcriptase in ALS and elimination of a novel retroviral candidate

(2008) A. L. McCormick et al.   NEUROLOGY