A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.
暂无分享,去创建一个
L. Schaeffer | F. Sellal | J. Loeffler | B. Blot | R. Sadoul | A. Vernay | Ludivine Therreau | V. Risson | S. Dirrig‐Grosch | Robin Waegaert | Thiebault Lequeu | F. René | F. René | Aurélia Vernay | Béatrice Blot
[1] J. Silver,et al. Regulation of Thy-1 gene expression in transgenic mice , 1987, Cell.
[2] A. Pramatarova,et al. Neuron-Specific Expression of Mutant Superoxide Dismutase 1 in Transgenic Mice Does Not Lead to Motor Impairment , 2001, The Journal of Neuroscience.
[3] J. Hodges,et al. Motor neurone disease, dementia and aphasia: coincidence, co-occurrence or continuum? , 2001, Journal of Neurology.
[4] P. Johannsen,et al. A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3 , 2007, Journal of neuropathology and experimental neurology.
[5] T. Hortobágyi,et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion , 2012, Acta Neuropathologica.
[6] R. Oppenheim,et al. Complete Dissociation of Motor Neuron Death from Motor Dysfunction by Bax Deletion in a Mouse Model of ALS , 2006, The Journal of Neuroscience.
[7] Pico Caroni,et al. Overexpression of growth-associated proteins in the neurons of adult transgenic mice , 1997, Journal of Neuroscience Methods.
[8] Victoria Del Gaizo Moore,et al. Characterization of early pathogenesis in the SOD1G93A mouse model of ALS: part I, background and methods , 2013, Brain and behavior.
[9] J R Hodges,et al. The prevalence of frontotemporal dementia , 2002, Neurology.
[10] J. Glass,et al. Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man , 2004, Experimental Neurology.
[11] Erik Sahai,et al. Deficits in axonal transport precede ALS symptoms in vivo , 2010, Proceedings of the National Academy of Sciences.
[12] Holger Hummerich,et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia , 2005, Nature Genetics.
[13] H. Kawakami,et al. A unique pattern of astrocytosis in the primary motor area in amyotrophic lateral sclerosis , 1991, Acta Neuropathologica.
[14] Roland G Henry,et al. Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. , 2007, Archives of neurology.
[15] C. Shaw,et al. Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. , 2007, Human molecular genetics.
[16] F. Sellal,et al. Evaluating Behavior in Mouse Models of the Behavioral Variant of Frontotemporal Dementia: Which Test for Which Symptom? , 2015, Neurodegenerative Diseases.
[17] J. Collinge,et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) , 2006, Neurology.
[18] Sonja W. Scholz,et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2010, Neuron.
[19] Patrick Santens,et al. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. , 2008, Human molecular genetics.
[20] A. Echaniz-Laguna,et al. Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin , 2009, Muscle & nerve.
[21] L. Fagni,et al. Regulation of Postsynaptic Function by the Dementia-Related ESCRT-III Subunit CHMP2B , 2015, The Journal of Neuroscience.
[22] P. Caroni,et al. Accumulation of SOD1 Mutants in Postnatal Motoneurons Does Not Cause Motoneuron Pathology or Motoneuron Disease , 2002, The Journal of Neuroscience.
[23] P. Johannsen,et al. Frontotemporal Dementia Caused by CHMP2B Mutations , 2011, Current Alzheimer research.
[24] R. Eftimie,et al. Myogenin and MyoD join a family of skeletal muscle genes regulated by electrical activity. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[25] L. Petrucelli,et al. Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia , 2014, Nature Medicine.
[26] A. M. Correia,et al. Early Changes of Neuromuscular Transmission in the SOD1(G93A) Mice Model of ALS Start Long before Motor Symptoms Onset , 2013, PloS one.
[27] A. Ludolph,et al. Energy metabolism in amyotrophic lateral sclerosis , 2011, The Lancet Neurology.
[28] C. Hoogenraad,et al. Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice , 2008, The Journal of Neuroscience.
[29] K. Verbanac,et al. Real-time PCR to determine transgene copy number and to quantitate the biolocalization of adoptively transferred cells from EGFP-transgenic mice. , 2008, BioTechniques.
[30] D. Schiffer,et al. Reactive astrogliosis of the spinal cord in amyotrophic lateral sclerosis , 1996, Journal of the Neurological Sciences.
[31] Paul G. Ince,et al. Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS) , 2010, PloS one.
[32] O. Hardiman,et al. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study , 2011, Journal of Neurology, Neurosurgery & Psychiatry.
[33] B. Dubois,et al. CHMP2B mutations are rare in French families with frontotemporal lobar degeneration , 2010, Journal of Neurology.
[34] J. Morrison,et al. Time course of neuropathology in the spinal cord of G86R superoxide dismutase transgenic mice , 1998, The Journal of comparative neurology.
[35] P. Heutink,et al. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia , 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[36] S Gydesen,et al. Chromosome 3 linked frontotemporal dementia (FTD-3) , 2002, Neurology.
[37] B. Miller,et al. Frontotemporal dementia: a bridge between dementia and neuromuscular disease , 2015, Annals of the New York Academy of Sciences.
[38] J. Changeux,et al. Acetylcholine receptor gene expression at the developing neuromuscular junction. , 1995, Physiological reviews.
[39] N. Cairns,et al. TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration , 2009, Proceedings of the National Academy of Sciences.
[40] V. Meininger,et al. Amyotrophic lateral sclerosis: all roads lead to Rome , 2007, Journal of neurochemistry.
[41] C. van Broeckhoven,et al. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations , 2010, Human molecular genetics.
[42] S. Young,et al. ESCRT-III Dysfunction Causes Autophagosome Accumulation and Neurodegeneration , 2007, Current Biology.
[43] Peter H. L. Krijger,et al. Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping , 2014, Nature Biotechnology.
[44] A. Ludolph,et al. Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease , 2009, Experimental Neurology.
[45] T. Siddique,et al. What is repeated in ALS and FTLD , 2012, The Lancet Neurology.
[46] A. Echaniz-Laguna,et al. Sodium Valproate Exerts Neuroprotective Effects In Vivo through CREB-Binding Protein-Dependent Mechanisms But Does Not Improve Survival in an Amyotrophic Lateral Sclerosis Mouse Model , 2007, The Journal of Neuroscience.
[47] J. Collinge,et al. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology , 2015, Acta Neuropathologica.
[48] E. K. Bjornskov,et al. Quantitative axon terminal and end-plate morphology in amyotrophic lateral sclerosis. , 1984, Archives of neurology.
[49] D. Cleveland,et al. Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis , 2013, Neuron.
[50] Xun Hu,et al. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis , 2008, Science.
[51] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[52] A. Lannuzel,et al. Clinical varieties and epidemiological aspects of amyotrophic lateral sclerosis in the Caribbean island of Guadeloupe: A new focus of ALS associated with Parkinsonism , 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.
[53] Valerie J. Bolivar,et al. A novel social proximity test suggests patterns of social avoidance and gaze aversion-like behavior in BTBR T+ tf/J mice , 2011, Behavioural Brain Research.
[54] T. Siddique,et al. Protein recycling pathways in neurodegenerative diseases , 2014, Alzheimer's Research & Therapy.
[55] I. Mackenzie,et al. Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene , 2009, Acta Neuropathologica.
[56] Victoria Del Gaizo Moore,et al. Characterization of early pathogenesis in the SOD1G93A mouse model of ALS: part II, results and discussion , 2013, Brain and behavior.
[57] D. Yves von Cramon,et al. Towards a nosology for frontotemporal lobar degenerations—A meta-analysis involving 267 subjects , 2007, NeuroImage.
[58] A. Al-Chalabi,et al. The genetics and neuropathology of amyotrophic lateral sclerosis , 2012, Acta Neuropathologica.
[59] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[60] Kuan-Hung Cho,et al. Ar Ticle Elevated Expression of Tdp-43 in the Forebrain of Mice Is Sufficient to Cause Neurological and Pathological Phenotypes Mimicking Ftld-u , 2022 .
[61] E. Fisher,et al. Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment , 1997, Mammalian Genome.
[62] CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines , 2010, Journal of Cell Science.
[63] F. Saggioro,et al. Sudan Black B treatment reduces autofluorescence and improves resolution of in situ hybridization specific fluorescent signals of brain sections. , 2010, Histology and histopathology.
[64] J. Crawley,et al. Social deficits, stereotypy and early emergence of repetitive behavior in the C58/J inbred mouse strain , 2010, Behavioural Brain Research.
[65] Olivier Piguet,et al. Amyotrophic lateral sclerosis and frontotemporal dementia: distinct and overlapping changes in eating behaviour and metabolism , 2016, The Lancet Neurology.
[66] M. Gurney,et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. , 1994, Science.
[67] M. Strong,et al. Amyotrophic lateral sclerosis: A review of current concepts , 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
[68] K. Ikeda,et al. Pick's disease with amyotrophic lateral sclerosis (ALS): report of two autopsy cases and literature review , 1997, Journal of the Neurological Sciences.
[69] R. Caselli,et al. Cognitive impairment, frontotemporal dementia, and the motor neuron diseases , 2003, Annals of neurology.
[70] T. Doetschman,et al. Targeted Ablation of Plasma Membrane Ca2+-ATPase (PMCA) 1 and 4 Indicates a Major Housekeeping Function for PMCA1 and a Critical Role in Hyperactivated Sperm Motility and Male Fertility for PMCA4* , 2004, Journal of Biological Chemistry.
[71] Catherine Lomen-Hoerth,et al. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia , 2002, Neurology.
[72] Xun Hu,et al. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 , 2009, Science.
[73] J. Loeffler,et al. Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[74] J. Collinge,et al. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. , 2012, Brain : a journal of neurology.
[75] L. H. van den Berg,et al. Genetic Overlap between Apparently Sporadic Motor Neuron Diseases , 2012, PloS one.