Topic 61

amyotrophic als sclerosis lateral neurodegenerative ftd c9orf72 frontotemporal motor tdp neurodegeneration 43 disease neurons dementia sod1 cytoplasmic neuroscience dipeptide spinal aggregates neuronal repeat fus toxicity pathological familial hexanucleotide degeneration protein aggregation sporadic toxic cord neuron cause mouse mutations nuclear g4c2 proteins diseases patients inclusions rna mn progression ipsc sod1g93a pathology binding expansion patient associated mislocalization dprs autophagy translation aberrant hallmark mns repeats mutant pathogenesis forms mutation tdp43 ran loss model increased deficits mice transport presymptomatic reduced survival derived dismutase linked death neuromuscular fatal synapse dpr superoxide c9 altered ggggcc mortem accumulation ubiquitinated dysfunction models transgenic poly g93a involved cortex formation

87 items. Top items listed below.

TDP-43 stabilizes transcripts encoding stress granule protein G3BP1: potential relevance to ALS/FTD 61 49 3

Cytoplasmic accumulation of FUS triggers early behavioral alterations linked to cortical neuronal hyperactivity and defects in inhibitory synapses 61 11 3 2

Hsp90 and its co-chaperone Sti1 control TDP-43 misfolding and toxicity 61 34 3

FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation 61 49 3

Induction Of Chronic Stress Reveals An Interplay Of Stress Granules And TDP-43 Pathological Aggregates In Human ALS Fibroblasts And iPSC-Neurons 61 10 3

CHMP2B regulates TDP-43 phosphorylation and proteotoxicity via modulating CK1 turnover independent of the autophagy-lysosomal pathway 61 34 3

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis (ALS) 61 39 10

TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS 61 34 3

Reduction of Nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43-related neurodegeneration 61 54 32 3

Phase separation of toxic dipeptide repeat proteins related to C9orf72 ALS/FTD 61 8

SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis 61 9 3

Type I PRMT inhibition protects against C9ORF72 arginine-rich dipeptide repeat toxicity 61 49 3

Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity 61 49 45 3

In Vivo Validation of Bimolecular Fluorescence Complementation (BiFC) to Investigate Aggregate Formation in Amyotrophic Lateral Sclerosis (ALS) 61 11 8

Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice 61 10 3

Amyotrophic lateral sclerosis associated mislocalisation of TDP-43 to the cytoplasm causes cortical hyperexcitability and reduced excitatory neurotransmission in the motor cortex. 61 11 3 2

Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM 61 51 49 8 3

RNA-binding protein network alteration causes aberrant axon branching and growth phenotypes in FUS ALS mutant motoneurons 61 3

Multiple pathways of toxicity induced by C9orf72 dipeptide repeat aggregates and G4C2 RNA in a cellular model 61 49 3

The carboxyl-termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD 61 49 3

A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation 61 49 3

MRI-guided histology of TDP-43 knock-in mice implicates parvalbumin interneuron loss, impaired neurogenesis and aberrant neurodevelopment in ALS-FTD 61 11 2

Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility 61 9 3

TDP-43 proteinopathy alters the ribosome association of multiple mRNAs including the glypican Dally-like protein (Dlp)/GPC6 61 49 11 3

FUS gene is dual-coding with both proteins united in FUS-mediated toxicity 61 3

Synaptic accumulation of FUS triggers age-dependent misregulation of inhibitory synapses in ALS-FUS mice 61 11 3

TDP-43 deficiency links Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage 61 46 3

Role of CNC1 gene in TDP-43 aggregation-induced oxidative stress-mediated cell death in S. cerevisiae model of ALS. 61 3

Characterization of the motor cortex transcriptome supports microgial-related key events in amyotrophic lateral sclerosis 61 9 3

BioID analysis of the cyclin F interactome reveals that ALS-variant cyclin F alters the homeostasis of paraspeckle-associated proteins 61 3

Riluzole does not ameliorate disease caused by cytoplasmic TDP-43 in a mouse model of amyotrophic lateral sclerosis 61 10 3

Exifone is a Potent HDAC1 Activator with Neuroprotective Activity in Human Neuronal Models of Neurodegeneration 61 32 3

Automated and unbiased classification of motor neuron phenotypes with single cell resolution in ALS tissue. 61 59 26 4

Genoppi: an open-source software for robust and standardized integration of proteomic and genetic data 61 4

Tryptophan residues in TDP-43 and SOD1 mediate the cross-seeding and toxicity of SOD1 61 3

Connexin 43 hemichannels mediate spatial and temporal disease spread in ALS 61 11 3

Absence of receptor for advanced glycation end product (RAGE) reduces inflammation and extends survival in the hSOD1G93A mouse model of amyotrophic lateral sclerosis 61 10 3

Insight into the autosomal-dominant inheritance pattern of SOD1-associated ALS from native mass spectrometry 61 45

Glucose clearance and uptake is increased in the SOD1G93A mouse model of amyotrophic lateral sclerosis through an insulin-independent mechanism 61 39 10 3

High content live profiling reveals concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis. 61 3

TNF receptor associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation 61 3

Neurodegenerative disease-associated protein aggregates are poor inducers of the heat shock response in neuronal-like cells 61 54 3

Salience network atrophy links neuron type-specific degeneration to loss of empathy in frontotemporal dementia 61 11 2

C9orf72- derived proline:arginine poly-dipeptides disturb cytoskeletal architecture 61 55 34 3

Single-cell RNA-seq analysis of human iPSC-derived motor neurons resolves early and predictive ALS signatures 61 57 20 9 3

Fused in sarcoma regulates DNA replication timing and progression 61 46 31 3

Functional characterization of Neurofilament Light b splicing and misbalance in zebrafish 61 11 3

Genetic ablation of SOD1G37R selectively from corticofugal projection neurons protects corticospinal neurons from degeneration without affecting ALS onset and progression 61 11 10

Optineurin promotes aggregation of mutant huntingtin and mutant ataxin-3, and reduces cytotoxicity of aggregates 61 34 3

Analysis of circulating protein aggregates reveals pathological hallmarks of amyotrophic lateral sclerosis 61 10

Exposure to a mixture of BMAA and MCLR synergistically modulates behavior in larval zebrafish while exacerbating molecular changes related to neurodegeneration. 61 10 3

Disrupted copper availability in sporadic ALS: Implications for CuII(atsm) as a treatment option 61 10 3

Cyclophilin A knock-out mice develop a pure frontotemporal dementia phenotype with marked TDP-43 pathology 61 11 10 3

Activated iPSC-microglia from C9orf72 ALS/FTD patients exhibit endosomal-lysosomal dysfunction 61 57 3

Structure of the lysosomal SCARF (L-SCARF) complex, an Arf GAP haploinsufficient in ALS and FTD 61 51 8 3

NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models 61

CDNF rescues motor neurons in three animal models of ALS by targeting ER stress 61 10 3

The nuclear localization sequence mediates hnRNPA1 amyloid fibril formation revealed by cryoEM structure 61 51 8 3

Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment 61 8 3

ALS-linked mutations impair UBQLN2 stress-induced biomolecular condensate assembly in cells 61 3

Caudal-rostral progression of alpha motoneurone degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis 61 11 2

Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition 61 57 11 10 3

Methods for quantitative susceptibility and R2* mapping in whole post-mortem brains at 7T 61 59 22 2

Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a 61 51 8 3

Circulating miR-181a-5p is a prognostic biomarker for amyotrophic lateral sclerosis 61

Properties of Glial Cell at the Neuromuscular Junction are Incompatible with synaptic repair in the SOD1G37R ALS mouse model 61 11 3

A validated quantitative method for the assessment of neuroprotective barrier impairment in neurodegenerative disease models 61 32

A CHCHD10 variant causing ALS elicits an unfolded protein response through the IRE1/XBP1 pathway 61 3

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. 61 11 10 2

Diminished ventral oligodendrocyte precursor generation results in the subsequent over-production of dorsal oligodendrocyte precursors of aberrant morphology and function 61 11 3

Retrograde transport defects in Munc18-1 null neurons explain abnormal Golgi morphology 61 34 3

Lysine acetylation of TDP-43 drives phase separation and pathological aggregation 61 3

Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice 61 9 3

ANTAGONISTIC ROLES FOR ATAXIN-2 STRUCTURED AND DISORDEREDDOMAINS IN RNP CONDENSATION 61 49 34 3

SPACE exploration of chromatin proteome to reveal associated RNA-binding proteins 61 31 8 4

Cerebral Atrophy in Amyotrophic Lateral Sclerosis Parallels the Pathological Distribution of TDP43 75 61 22 15 2

Spinal motoneurones are intrinsically more responsive in the adult G93A SOD1 mouse model of Amyotrophic Lateral Sclerosis 61 11 2

Immune reactivity to neurofilaments and dipeptide repeats in ALS progression 61 15 10

An aberrant cytoplasmic intron retention programme is a blueprint for ALS-related RBP mislocalization 6 3

Inhibitory interneurons show early dysfunction in a SOD1 mouse model of ALS 61 11

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation 61

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. 61 9

The homeoprotein ENGRAILED-1 promotes motoneuron survival and motor functions 61 11 3

Arf1-Ablation-Induced Neuronal Damage Promotes Neurodegeneration Through an NLRP3 Inflammasome-Meningeal γδ T cell-IFNγ-Reactive Astrocyte Pathway 110 61 11 10 3

AggreCount: An unbiased image analysis tool for identifying and quantifying cellular aggregates in a spatial manner 61 18 4

Spatio-temporal Proteomic Analysis of Stress Granule disassembly using APEX Reveals Regulation by SUMOylation and links to ALS pathogenesis 6 3

G4C2 repeat RNA mediates the disassembly of the nuclear pore complex in C9orf72 ALS/FTD 61 3

Global proteomics of Ubqln2-based murine models of ALS 61 3

Electrophysiological Phenotype Characterization of Human iPSC-Derived Neuronal Cell Lines by Means of High-Density Microelectrode Arrays 54 11 2

Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles 54 3

The metal cofactor zinc and interacting membranes modulate SOD1 conformation-aggregation landscape in an in vitro ALS Model 78 61 8

The inhibition of LSD1 via sequestration contributes to tau-mediated neurodegeneration 32 11 3

Locomotor deficits in ALS mice are paralleled by loss of V1-interneuron-connections onto fast motor neurons 11 2

A conserved role for SFPQ in repression of pathogenic cryptic last exons 49 3

Demyelination induces selective vulnerability of inhibitory networks in multiple sclerosis 11 2

Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates 69 10 3

Variant-specific changes in persistent or resurgent Na+ current in SCN8A-EIEE13 iPSC-derived neurons 124 82 65 11 10

Meningeal inflammation in multiple sclerosis induces phenotypic changes in cortical microglia that differentially associate with neurodegeneration 65 11 10 3

mTOR inhibition in primary neurons and the developing brain represses transcription of cholesterol biosynthesis genes and alters cholesterol levels 133 31 3

Presynaptic accumulation of α-synuclein causes synaptopathy and progressive neurodegeneration 54 11 3