Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity
暂无分享,去创建一个
F. Salachas | S. Blanchard | D. Bohl | L. Lacomblez | D. Seilhean | M. Davenne | C. Lobsiger | S. Millecamps | S. Boillée | C. Nicaise | C. Dalle | B. L. d'Incamps | Stéphanie Bigou | Cynthia Lefebvre-Omar | Léa Karpf | Guillaume Tournaire | N. Robil | Clement Daube | Elise Liu | Coline Jost Mousseau
[1] S. K. Suthar,et al. The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics , 2023, Brain sciences.
[2] Sherif M. Elbasiouny,et al. Motoneuron excitability dysfunction in ALS: Pseudo‐mystery or authentic conundrum? , 2022, The Journal of physiology.
[3] Timothy A. Miller,et al. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. , 2022, The New England journal of medicine.
[4] J. Twiss,et al. Axon Initial Segments Are Required for Efficient Motor Neuron Axon Regeneration and Functional Recovery of Synapses , 2022, The Journal of Neuroscience.
[5] T. Südhof,et al. Endocytosis in the axon initial segment maintains neuronal polarity , 2022, Nature.
[6] E. Hedlund,et al. The Cell Autonomous and Non-Cell Autonomous Aspects of Neuronal Vulnerability and Resilience in Amyotrophic Lateral Sclerosis , 2022, Biology.
[7] Liping He,et al. Crystal structure of Ankyrin-G in complex with a fragment of Neurofascin reveals binding mechanisms required for integrity of the axon initial segment , 2022, The Journal of biological chemistry.
[8] P. Penzes,et al. Roles and mechanisms of ankyrin-G in neuropsychiatric disorders , 2022, Experimental & Molecular Medicine.
[9] K. Shen,et al. The function of the axon initial segment in neuronal polarity. , 2022, Developmental biology.
[10] Ilmin Kwon,et al. Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS , 2022, Proceedings of the National Academy of Sciences of the United States of America.
[11] Maxime Beau,et al. Alterations of the axon initial segment in multiple sclerosis grey matter , 2022, bioRxiv.
[12] Rémi Bos,et al. Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 , 2021, Neurobiology of Disease.
[13] H. Zetterberg,et al. Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons , 2022, Frontiers in Cell and Developmental Biology.
[14] R. Powers,et al. Axon initial segment geometry in relation to motoneuron excitability , 2021, PloS one.
[15] Boris Guennewig,et al. New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis , 2021, Translational neurodegeneration.
[16] P. Avoni,et al. Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study , 2021, Frontiers in Aging Neuroscience.
[17] T. Qian,et al. Role of Blood Neurofilaments in the Prognosis of Amyotrophic Lateral Sclerosis: A Meta-Analysis , 2021, Frontiers in Neurology.
[18] D. Debanne,et al. Formin Activity and mDia1 Contribute to Maintain Axon Initial Segment Composition and Structure , 2021, Molecular Neurobiology.
[19] V. Meininger,et al. Neurofilament light and heterogeneity of disease progression in amyotrophic lateral sclerosis: development and validation of a prediction model to improve interventional trials , 2021, Translational neurodegeneration.
[20] M. Schachner,et al. Interplay in neural functions of cell adhesion molecule close homolog of L1 (CHL1) and Programmed Cell Death 6 (PDCD6) , 2021, FASEB bioAdvances.
[21] P. Nissen,et al. Mind the gap: molecular architecture of the axon initial segment - from fold prediction to a mechanistic model of function? , 2021, Journal of molecular biology.
[22] Y. Marie,et al. Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities , 2021, Journal of Neurology, Neurosurgery, and Psychiatry.
[23] A. Kania,et al. Paxillin Is Required for Proper Spinal Motor Axon Growth into the Limb , 2021, The Journal of Neuroscience.
[24] P. van Damme,et al. HDAC6 inhibition restores TDP‐43 pathology and axonal transport defects in human motor neurons with TARDBP mutations , 2021, The EMBO journal.
[25] L. Pozzi,et al. Current application of neurofilaments in amyotrophic lateral sclerosis and future perspectives , 2021, Neural Regeneration Research.
[26] Sandy L. Klemm,et al. Single-cell transcriptomic analysis of the adult mouse spinal cord reveals molecular diversity of autonomic and skeletal motor neurons , 2020, Nature Neuroscience.
[27] D. Debanne,et al. Neural excitability increases with axonal resistance between soma and axon initial segment , 2020, Proceedings of the National Academy of Sciences.
[28] Sangeetha Hareendran,et al. Single nucleus RNA-sequencing defines unexpected diversity of cholinergic neuron types in the adult mouse spinal cord , 2020, Nature Communications.
[29] C. Meehan,et al. Increased Axon Initial Segment Length Results in Increased Na+ Currents in Spinal Motoneurones at Symptom Onset in the G127X SOD1 Mouse Model of Amyotrophic Lateral Sclerosis , 2020, Neuroscience.
[30] P. van Damme,et al. C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility , 2019, Science Advances.
[31] A. Oguro-Ando,et al. Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder , 2021, Frontiers in Cellular Neuroscience.
[32] G. Soraru',et al. Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers , 2020, Molecular neurodegeneration.
[33] L. Petrucelli,et al. C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy , 2020, Science Translational Medicine.
[34] D. Reglodi,et al. Differential Vulnerability of Oculomotor Versus Hypoglossal Nucleus During ALS: Involvement of PACAP , 2020, Frontiers in Neuroscience.
[35] K. Blennow,et al. A multi-center study of neurofilament assay reliability and inter-laboratory variability , 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.
[36] U. Stelzl,et al. RIM-binding protein couples synaptic vesicle recruitment to release sites , 2020, The Journal of cell biology.
[37] N. Suzuki,et al. Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS) , 2020, Frontiers in Neuroscience.
[38] M. Bickle,et al. Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins , 2020, Stem cell reports.
[39] F. Pallardó,et al. Much More Than a Scaffold: Cytoskeletal Proteins in Neurological Disorders , 2020, Cells.
[40] C. Meehan,et al. Shorter axon initial segments do not cause repetitive firing impairments in the adult presymptomatic G127X SOD-1 Amyotrophic Lateral Sclerosis mouse , 2020, Scientific Reports.
[41] Andong Zhao,et al. Patient-Specific Cells for Modeling and Decoding Amyotrophic Lateral Sclerosis: Advances and Challenges , 2020, Stem Cell Reviews and Reports.
[42] A. Burlingame,et al. Mapping axon initial segment structure and function by multiplexed proximity biotinylation , 2020, Nature Communications.
[43] L. Van Den Bosch,et al. Axonal transport defects and neurodegeneration: Molecular mechanisms and therapeutic implications. , 2020, Seminars in cell & developmental biology.
[44] S. Wilton,et al. ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now? , 2019, Front. Neurosci..
[45] James Hawrot,et al. Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs , 2019, Neurobiology of Disease.
[46] James Briscoe,et al. Establishing neuronal diversity in the spinal cord: a time and a place , 2019, Development.
[47] R. Brette,et al. Theoretical relation between axon initial segment geometry and excitability , 2019, bioRxiv.
[48] Shiaoching Gong,et al. Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis , 2019, Neuron.
[49] S. Shadfar,et al. Motor Neuron Susceptibility in ALS/FTD , 2019, Front. Neurosci..
[50] Alessandro Didonna,et al. The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders , 2019, Molecular Neurodegeneration.
[51] E. Génin,et al. Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse , 2019, Acta Neuropathologica.
[52] Andrew R. Bassett,et al. Editing the Genome of Human Induced Pluripotent Stem Cells Using CRISPR/Cas9 Ribonucleoprotein Complexes. , 2019, Methods in molecular biology.
[53] K. Qian,et al. Modeling hallmark pathology using motor neurons derived from the family and sporadic amyotrophic lateral sclerosis patient-specific iPS cells , 2018, Stem Cell Research & Therapy.
[54] Yi-Hsin Wu,et al. Nck2 is essential for limb trajectory selection by spinal motor axons , 2018, Developmental dynamics : an official publication of the American Association of Anatomists.
[55] H. Okano,et al. Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent , 2018, Nature Medicine.
[56] C. Davies,et al. Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS , 2018, Cell Death & Disease.
[57] M. Rasband,et al. Axon initial segments: structure, function, and disease , 2018, Annals of the New York Academy of Sciences.
[58] P. Corcia,et al. Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation , 2017, Neurobiology of Disease.
[59] W. Robberecht,et al. HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients , 2017, Nature Communications.
[60] Gary S Bhumbra,et al. Segregation of glutamatergic and cholinergic transmission at the mixed motoneuron Renshaw cell synapse , 2017, Scientific Reports.
[61] E. Hedlund,et al. Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis , 2017, Acta Neuropathologica.
[62] M. Gorbatyuk,et al. Neuronatin Protein in Health and Disease , 2017, Journal of cellular physiology.
[63] O. Medalia,et al. Phosphorylation-Induced Mechanical Regulation of Intrinsically Disordered Neurofilament Proteins. , 2016, Biophysical journal.
[64] G. Comi,et al. Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis , 2016, Scientific Reports.
[65] V. Turk,et al. Lysosomal cathepsins and their regulation in aging and neurodegeneration , 2016, Ageing Research Reviews.
[66] Steven L Jones,et al. Axon Initial Segment Cytoskeleton: Architecture, Development, and Role in Neuron Polarity , 2016, Neural plasticity.
[67] S. Kuwabara,et al. Axonal Dysfunction Precedes Motor Neuronal Death in Amyotrophic Lateral Sclerosis , 2016, PloS one.
[68] J. Jankowsky,et al. Amyloid-β plaques disrupt axon initial segments , 2016, Experimental Neurology.
[69] Christophe Leterrier,et al. The Axon Initial Segment, 50Years Later: A Nexus for Neuronal Organization and Function. , 2016, Current topics in membranes.
[70] A. Capalbo,et al. Discordant Growth of Monozygotic Twins Starts at the Blastocyst Stage: A Case Study , 2015, Stem cell reports.
[71] S. Blanchard,et al. Modeling amyotrophic lateral sclerosis in pure human iPSc-derived motor neurons isolated by a novel FACS double selection technique , 2015, Neurobiology of Disease.
[72] Daniel C. Lu,et al. Molecular and cellular development of spinal cord locomotor circuitry , 2015, Front. Mol. Neurosci..
[73] J. D. Foster,et al. Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability , 2015, Nature Communications.
[74] M. Peschanski,et al. Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes , 2014, Nature Biotechnology.
[75] W. Huber,et al. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.
[76] Lisle W. Blackbourn,et al. Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons. , 2014, Cell stem cell.
[77] W. Gan,et al. Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models. , 2014, Human molecular genetics.
[78] Bryan F. Shaw,et al. Deamidation of asparagine to aspartate destabilizes Cu, Zn superoxide dismutase, accelerates fibrillization, and mirrors ALS-linked mutations. , 2013, Journal of the American Chemical Society.
[79] G. Walko,et al. Plectin–intermediate filament partnership in skin, skeletal muscle, and peripheral nerve , 2013, Histochemistry and Cell Biology.
[80] G. Walko,et al. Plectin–intermediate filament partnership in skin, skeletal muscle, and peripheral nerve , 2013, Histochemistry and Cell Biology.
[81] M. Kiernan,et al. The Puzzling Case of Hyperexcitability in Amyotrophic Lateral Sclerosis , 2013, Journal of clinical neurology.
[82] Jean-Pierre Julien,et al. Axonal transport deficits and neurodegenerative diseases , 2013, Nature Reviews Neuroscience.
[83] Derek H. Oakley,et al. Accelerated High-Yield Generation of Limb-Innervating Motor Neurons from Human Stem Cells , 2013, The Journal of Neuroscience.
[84] Thomas R. Gingeras,et al. STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..
[85] V. Meininger,et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes , 2012, Journal of Medical Genetics.
[86] M. Rasband,et al. The axon initial segment in nervous system disease and injury , 2011, The European journal of neuroscience.
[87] S. Blanchard,et al. Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells. , 2011, Human molecular genetics.
[88] H. Kampinga,et al. The diverse members of the mammalian HSP70 machine show distinct chaperone-like activities. , 2011, The Biochemical journal.
[89] Veeranna,et al. The Myosin Va Head Domain Binds to the Neurofilament-L Rod and Modulates Endoplasmic Reticulum (ER) Content and Distribution within Axons , 2011, PloS one.
[90] M. Strong,et al. Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS) , 2009, Brain Research.
[91] Fudong Liu,et al. Disruption of the Axon Initial Segment Cytoskeleton Is a New Mechanism for Neuronal Injury , 2009, The Journal of Neuroscience.
[92] M. Poo,et al. A Selective Filter for Cytoplasmic Transport at the Axon Initial Segment , 2009, Cell.
[93] Zoltan Nusser,et al. Cell-Type-Dependent Molecular Composition of the Axon Initial Segment , 2008, The Journal of Neuroscience.
[94] T. Jessell,et al. Hox Repertoires for Motor Neuron Diversity and Connectivity Gated by a Single Accessory Factor, FoxP1 , 2008, Cell.
[95] B. Kampa,et al. Action potential generation requires a high sodium channel density in the axon initial segment , 2008, Nature Neuroscience.
[96] T. Jessell,et al. Early Motor Neuron Pool Identity and Muscle Nerve Trajectory Defined by Postmitotic Restrictions in Nkx6.1 Activity , 2008, Neuron.
[97] S. Kato. Amyotrophic lateral sclerosis models and human neuropathology: similarities and differences , 2007, Acta Neuropathologica.
[98] L. Chimelli,et al. Quantitative evidence for neurofilament heavy subunit aggregation in motor neurons of spinal cords of patients with amyotrophic lateral sclerosis. , 2005, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.
[99] K. Abe,et al. Impairment of axonal transport in the axon hillock and the initial segment of anterior horn neurons in transgenic mice with a G93A mutant SOD1 gene , 2005, Acta Neuropathologica.
[100] G. Stephanopoulos,et al. Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter. , 2004, Physiological genomics.
[101] S. Yen,et al. Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis , 2004, Acta Neuropathologica.
[102] M. Schachner,et al. Close Homolog of L1 Is an Enhancer of Integrin-mediated Cell Migration* , 2003, Journal of Biological Chemistry.
[103] V. Bennett,et al. Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments , 2001, The Journal of cell biology.
[104] T. Jessell,et al. Coordinate Regulation of Motor Neuron Subtype Identity and Pan-Neuronal Properties by the bHLH Repressor Olig2 , 2001, Neuron.
[105] Silvia Arber,et al. Requirement for the Homeobox Gene Hb9 in the Consolidation of Motor Neuron Identity , 1999, Neuron.
[106] S. Pfaff,et al. Active Suppression of Interneuron Programs within Developing Motor Neurons Revealed by Analysis of Homeodomain Factor HB9 , 1999, Neuron.
[107] D. Cleveland,et al. Slowing of axonal transport is a very early event in the toxicity of ALS–linked SOD1 mutants to motor neurons , 1999 .
[108] J. Julien,et al. Neurofilaments and motor neuron disease. , 1997, Trends in cell biology.
[109] C. Wikkelsø,et al. Patients with Amyotrophic Lateral Sclerosis and Other Neurodegenerative Diseases Have Increased Levels of Neurofilament Protein in CSF , 1996, Journal of neurochemistry.
[110] S. Sasaki,et al. Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis , 1996, Neurology.
[111] Guy A. Rouleau,et al. SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries , 1996 .
[112] A. Clark,et al. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. , 1996, Annals of neurology.
[113] J. Julien,et al. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis , 1995, Nature.
[114] G. Shaw,et al. Distribution of plectin, an intermediate filament‐associated protein, in the adult rat central nervous system , 1994, Journal of neuroscience research.
[115] B. Weisshaar,et al. The low molecular weight form of microtubule-associated protein 2 is transported into both axons and dendrites , 1993, Neuroscience.
[116] L. Cork,et al. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease , 1993, Cell.
[117] S. Maruyama,et al. Increase in diameter of the axonal initial segment is an early change in amyotrophic lateral sclerosis , 1992, Journal of the Neurological Sciences.
[118] S. Maruyama,et al. Ultrastructure of swollen proximal axons of anterior horn neurons in motor neuron disease , 1990, Journal of the Neurological Sciences.
[119] S. Maruyama,et al. Swellings of proximal axons in a case of motor neuron disease , 1989, Annals of neurology.
[120] K. Angelides,et al. Ankyrin and spectrin associate with voltage-dependent sodium channels in brain , 1988, Nature.
[121] A. Hirano,et al. Fine Structural Observations of Neurofilamentous Changes in Amyotrophic Lateral Sclerosis , 1984, Journal of neuropathology and experimental neurology.
[122] L. Kurland,et al. Fine Structural Study of Neurofibrillary Changes in a Family with Amyotrophic Lateral Sclerosis , 1984, Journal of neuropathology and experimental neurology.