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C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ana.410360608openalex-snapshot

The role of calcium‐binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis

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A Pan‐ E uropean Study of the C9orf72 Repeat Associated with FTLD : Geographic Prevalence, Genomic Instability, and Intermediate Repeats

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Inhibition of the Rho/ROCK pathway reduces apoptosis during transplantation of embryonic stem cell‐derived neural precursors

inferredcites →https://doi.org/10.1006/meth.2001.1262openalex-snapshot

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

inferredcites →https://doi.org/10.1007/s00401-012-1048-7openalex-snapshot

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

inferredcites →https://doi.org/10.1007/s00401-013-1149-yopenalex-snapshot

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

inferredcites →https://doi.org/10.1007/s00401-013-1200-zopenalex-snapshot

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

inferredcites →https://doi.org/10.1016/j.ajhg.2013.01.011openalex-snapshot

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

inferredcites →https://doi.org/10.1016/j.ceca.2009.12.002openalex-snapshot

Calcium dysregulation in amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1016/j.cell.2013.05.037openalex-snapshot

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

inferredcites →https://doi.org/10.1016/j.molcel.2008.06.014openalex-snapshot

Targeting Bcl-2-IP3 Receptor Interaction to Reverse Bcl-2's Inhibition of Apoptotic Calcium Signals

inferredcites →https://doi.org/10.1016/j.molcel.2009.11.020openalex-snapshot

Eukaryotic Stress Granules: The Ins and Outs of Translation

inferredcites →https://doi.org/10.1016/j.nbd.2014.12.010openalex-snapshot

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neurons

inferredcites →https://doi.org/10.1016/j.neuron.2011.06.031openalex-snapshot

Selective Neuronal Vulnerability in Neurodegenerative Diseases: from Stressor Thresholds to Degeneration

inferredcites →https://doi.org/10.1016/j.neuron.2011.09.010openalex-snapshot

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

inferredcites →https://doi.org/10.1016/j.neuron.2011.09.011openalex-snapshot

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

inferredcites →https://doi.org/10.1016/j.neuron.2013.02.004openalex-snapshot

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

inferredcites →https://doi.org/10.1016/j.neuron.2013.10.015openalex-snapshot

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

inferredcites →https://doi.org/10.1016/j.stem.2012.11.002openalex-snapshot

Generation of Rejuvenated Antigen-Specific T Cells by Reprogramming to Pluripotency and Redifferentiation

inferredcites →https://doi.org/10.1016/j.stem.2014.03.004openalex-snapshot

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

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ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

inferredcites →https://doi.org/10.1016/s0002-9440(10)64369-6openalex-snapshot

p62 Is a Common Component of Cytoplasmic Inclusions in Protein Aggregation Diseases

inferredcites →https://doi.org/10.1016/s0166-2236(00)01548-4openalex-snapshot

Calcium signaling in the ER: its role in neuronal plasticity and neurodegenerative disorders

inferredcites →https://doi.org/10.1016/s1474-4422(11)70261-7openalex-snapshot

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

inferredcites →https://doi.org/10.1016/s1474-4422(12)70043-1openalex-snapshot

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

inferredcites →https://doi.org/10.1038/35097565openalex-snapshot

From charcot to lou gehrig: deciphering selective motor neuron death in als

inferredcites →https://doi.org/10.1038/74994openalex-snapshot

Mitochondrial control of cell death

inferredcites →https://doi.org/10.1038/nature13124openalex-snapshot

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

inferredcites →https://doi.org/10.1038/nbt.3049openalex-snapshot

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

inferredcites →https://doi.org/10.1038/ncomms4449openalex-snapshot

High-efficiency motor neuron differentiation from human pluripotent stem cells and the function of Islet-1

inferredcites →https://doi.org/10.1038/ng1665openalex-snapshot

The origins and uses of mouse outbred stocks

inferredcites →https://doi.org/10.1038/nprot.2009.127openalex-snapshot

Differentiation of spinal motor neurons from pluripotent human stem cells

inferredcites →https://doi.org/10.1038/nprot.2012.116openalex-snapshot

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

inferredcites →https://doi.org/10.1038/nprot.2012.130openalex-snapshot

Passaging and colony expansion of human pluripotent stem cells by enzyme-free dissociation in chemically defined culture conditions

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The role of mitochondrial factors in apoptosis: a Russian roulette with more than one bullet

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Development of Defective and Persistent Sendai Virus Vector

inferredcites →https://doi.org/10.1074/jbc.m802182200openalex-snapshot

Structural Basis for Sorting Mechanism of p62 in Selective Autophagy

inferredcites →https://doi.org/10.1083/jcb.200309146openalex-snapshot

Bcl-2 functionally interacts with inositol 1,4,5-trisphosphate receptors to regulate calcium release from the ER in response to inositol 1,4,5-trisphosphate

inferredcites →https://doi.org/10.1093/brain/awr365openalex-snapshot

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

inferredcites →https://doi.org/10.1093/hmg/ddv005openalex-snapshot

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

inferredcites →https://doi.org/10.1097/00001756-200107200-00009openalex-snapshot

Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies

inferredcites →https://doi.org/10.1111/j.1440-1789.2011.01286.xopenalex-snapshot

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

inferredcites →https://doi.org/10.1111/j.1469-7793.1998.105bi.xopenalex-snapshot

Endogenous calcium buffering in motoneurones of the nucleus hypoglossus from mouse

inferredcites →https://doi.org/10.1111/j.1471-4159.2004.02692.xopenalex-snapshot

Increased expression of p62 in expanded polyglutamine‐expressing cells and its association with polyglutamine inclusions

inferredcites →https://doi.org/10.1111/j.1742-4658.2007.05639.xopenalex-snapshot

ER stress and diseases

inferredcites →https://doi.org/10.1126/science.1232927openalex-snapshot

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

inferredcites →https://doi.org/10.1126/scitranslmed.3007529openalex-snapshot

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

inferredcites →https://doi.org/10.1242/dev.68.1.175openalex-snapshot

Investigation of cell lineage and differentiation in the extraembryonic endoderm of the mouse embryo

inferredcites →https://doi.org/10.1242/jcs.00829openalex-snapshot

Bcl-2 on the endoplasmic reticulum: protecting the mitochondria from a distance

inferredcites →https://doi.org/10.1371/journal.pone.0018271openalex-snapshot

ROCK Inhibitor Y-27632 Suppresses Dissociation-Induced Apoptosis of Murine Prostate Stem/Progenitor Cells and Increases Their Cloning Efficiency

inferredcites →https://doi.org/10.1371/journal.pone.0071098openalex-snapshot

Efficient, Long Term Production of Monocyte-Derived Macrophages from Human Pluripotent Stem Cells under Partly-Defined and Fully-Defined Conditions

inferredcites →https://doi.org/10.1371/journal.pone.0087388openalex-snapshot

Physiological Characterisation of Human iPS-Derived Dopaminergic Neurons

inferredcites →https://doi.org/10.18388/abp.2005_3451openalex-snapshot

Endoplasmic reticulum quality control and apoptosis.

inferredcites →https://doi.org/10.2174/156652408783769571openalex-snapshot

Ca2+ Signaling, Mitochondria and Cell Death

What points at this work

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Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

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PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD

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TDP-43 impairs glycolysis by sequestering hexokinase 1 in amyotrophic lateral sclerosis

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Endoplasmic Reticulum Stress Signalling Induces Casein Kinase 1-Dependent Formation of Cytosolic TDP-43 Inclusions in Motor Neuron-Like Cells

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Reduced mtDNA Copy Number in the Prefrontal Cortex of C9ORF72 Patients

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C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD

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Poly-PR in C9ORF72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Causes Neurotoxicity by Clathrin-Dependent Endocytosis

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Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia

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Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from iNPH patients show changes in energy metabolism but no cell pathologies

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Pathways to mitochondrial dysfunction in ALS pathogenesis

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RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling

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Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis

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C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly

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The role of amyloid oligomers in neurodegenerative pathologies

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Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

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G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

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Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD

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RIPK1 is a critical modulator of both tonic and TLR-responsive inflammatory and cell death pathways in human macrophage differentiation

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C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation

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C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

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SUMOylation of SAMHD1 at Lysine 595 is required for HIV-1 restriction in non-cycling cells

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Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD

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Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release

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TransLeish: Identification of membrane transporters essential for survival of intracellular Leishmania parasites in a systematic gene deletion screen

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CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity

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Astrocytes regulate axonal mitochondrial transport deficits in C9ORF72 amyotrophic lateral sclerosis motor neurons

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Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

inferred← citeshttps://doi.org/10.1038/s41598-020-70170-3openalex-snapshot

Pharmacological activation of the circadian component REV-ERB inhibits HIV-1 replication

inferred← citeshttps://doi.org/10.1038/s41598-020-70687-7openalex-snapshot

Altered serum protein levels in frontotemporal dementia and amyotrophic lateral sclerosis indicate calcium and immunity dysregulation

inferred← citeshttps://doi.org/10.1038/s41598-021-82137-zopenalex-snapshot

Genome-wide CRISPR/Cas9-knockout in human induced Pluripotent Stem Cell (iPSC)-derived macrophages

inferred← citeshttps://doi.org/10.1038/s41598-021-97928-7openalex-snapshot

Neuronal mitochondrial dysfunction in sporadic amyotrophic lateral sclerosis is developmentally regulated

inferred← citeshttps://doi.org/10.1038/s41598-022-09751-3openalex-snapshot

Hyperexcitability in young iPSC-derived C9ORF72 mutant motor neurons is associated with increased intracellular calcium release

inferred← citeshttps://doi.org/10.1038/s41598-022-16896-8openalex-snapshot

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

inferred← citeshttps://doi.org/10.1038/s41598-022-23477-2openalex-snapshot

Single-cell transcriptomics defines an improved, validated monoculture protocol for differentiation of human iPSC to microglia

inferred← citeshttps://doi.org/10.1038/s42003-024-05925-zopenalex-snapshot

Generation of human iPSC-derived phrenic-like motor neurons to model respiratory motor neuron degeneration in ALS

inferred← citeshttps://doi.org/10.1038/s43587-023-00383-4openalex-snapshot

Cold temperature extends longevity and prevents disease-related protein aggregation through PA28γ-induced proteasomes

inferred← citeshttps://doi.org/10.1080/10409238.2018.1553926openalex-snapshot

Rab-dependent cellular trafficking and amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1080/21541248.2016.1212688openalex-snapshot

C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy

inferred← citeshttps://doi.org/10.1080/21678421.2018.1510571openalex-snapshot

Theme 4 Human cell biology and pathology

inferred← citeshttps://doi.org/10.1080/21678421.2019.1646993openalex-snapshot

Theme 5 Human cell biology and pathology

inferred← citeshttps://doi.org/10.1080/21678421.2021.1985789openalex-snapshot

Theme 03 - IN VITRO EXPERIMENTAL MODELS

inferred← citeshttps://doi.org/10.1093/brain/awad087openalex-snapshot

CDNF rescues motor neurons in models of amyotrophic lateral sclerosis by targeting endoplasmic reticulum stress

inferred← citeshttps://doi.org/10.1093/brain/awx024openalex-snapshot

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia

inferred← citeshttps://doi.org/10.1093/braincomms/fcae350openalex-snapshot

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons

inferred← citeshttps://doi.org/10.1093/hmg/ddaa106openalex-snapshot

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

inferred← citeshttps://doi.org/10.1093/hmg/ddad209openalex-snapshot

ALS iPSC-derived microglia and motor neurons respond to astrocyte-targeted IL-10 and CCL2 modulation

inferred← citeshttps://doi.org/10.1093/hmg/ddx148openalex-snapshot

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome

inferred← citeshttps://doi.org/10.1093/hmg/ddx274openalex-snapshot

Proteostasis disturbance in amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1093/hmg/ddz038openalex-snapshot

Cellular α-synuclein pathology is associated with bioenergetic dysfunction in Parkinson’s iPSC-derived dopamine neurons

inferred← citeshttps://doi.org/10.1093/hmg/ddz107openalex-snapshot

Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations

inferred← citeshttps://doi.org/10.1093/nar/gkab834openalex-snapshot

ZNF598 co-translationally titrates poly(GR) protein implicated in the pathogenesis of C9ORF72 -associated ALS/FTD

inferred← citeshttps://doi.org/10.1093/nar/gkaf253openalex-snapshot

High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation

inferred← citeshttps://doi.org/10.1093/nar/gkw711openalex-snapshot

Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease

inferred← citeshttps://doi.org/10.1099/jgv.0.001885openalex-snapshot

Hypoxia dampens innate immune signalling at early time points and increases Zika virus RNA levels in iPSC-derived macrophages

inferred← citeshttps://doi.org/10.1101/2019.12.17.864520openalex-snapshot

inferred← citeshttps://doi.org/10.1101/2020.05.05.078618openalex-snapshot

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

inferred← citeshttps://doi.org/10.1101/2022.07.05.498816openalex-snapshot

Proteomic signature and mesenchymal stromal/stem cell-derived extracellular vesicle treatment of iPSC motor neurons from different ALS patient groups

inferred← citeshttps://doi.org/10.1101/2022.08.25.505278openalex-snapshot

SAMHD1 controls nucleoside-based cancer therapeutics, deoxyguanosine toxicity, and inflammation

inferred← citeshttps://doi.org/10.1101/2022.09.01.22279305openalex-snapshot

Mitochondrial bioenergetic dysfunction and cryptic splicing of stathmin-2 are neuropathological markers of disease duration in sporadic amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1101/2022.09.05.506596openalex-snapshot

In silico identification of miRNAs related to mitochondrial dysfunction in amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1101/2023.02.21.529434openalex-snapshot

Hypoxia dampens innate immune signalling at early time points and increases Zika virus replication in iPSC-derived macrophages

inferred← citeshttps://doi.org/10.1101/2024.05.28.595117openalex-snapshot

Fibroblasts carrying intermediate C9orf72 hexanucleotide repeat expansions from iNPH patients show impaired energy metabolism but no cell pathologies

inferred← citeshttps://doi.org/10.1101/2024.06.21.600025openalex-snapshot

TransLeish: Identification of membrane transporters essential for survival of intracellular Leishmania parasites in a systematic gene deletion screen

inferred← citeshttps://doi.org/10.1101/2025.02.28.640849openalex-snapshot

C9orf72-ALS mutation drives mitophagy impairments in iNeurons

inferred← citeshttps://doi.org/10.1101/2025.06.10.658820openalex-snapshot

Astrocytes control motor neuronal mitochondrial axonal transport deficits in C9ORF72 ALS

inferred← citeshttps://doi.org/10.1101/593129openalex-snapshot

Single cell transcriptomics identifies master regulators of neurodegeneration in SOD1 ALS motor neurons

inferred← citeshttps://doi.org/10.1111/acel.13549openalex-snapshot

Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia

inferred← citeshttps://doi.org/10.1111/bpa.12520openalex-snapshot

Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells

inferred← citeshttps://doi.org/10.1111/bpa.12894openalex-snapshot

Unfolded protein response activation in C9orf72 frontotemporal dementia is associated with dipeptide pathology and granulovacuolar degeneration in granule cells

inferred← citeshttps://doi.org/10.1111/jnc.15125openalex-snapshot

Pathogenic or protective? Neuropeptide Y in amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1111/jnc.15160openalex-snapshot

Selective linkage of mitochondrial enzymes to intracellular calcium stores differs between human‐induced pluripotent stem cells, neural stem cells, and neurons

inferred← citeshttps://doi.org/10.1111/jnc.15255openalex-snapshot

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

inferred← citeshttps://doi.org/10.1111/jnc.15529openalex-snapshot

Proteostasis deregulation as a driver of C9ORF72 pathogenesis

inferred← citeshttps://doi.org/10.1111/jnc.16030openalex-snapshot

Data‐independent acquisition proteomics of cerebrospinal fluid implicates endoplasmic reticulum and inflammatory mechanisms in amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1126/scitranslmed.aah5436openalex-snapshot

RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration

inferred← citeshttps://doi.org/10.1136/jnnp-2017-316988openalex-snapshot

Convergent molecular defects underpin diverse neurodegenerative diseases

inferred← citeshttps://doi.org/10.1145/3429889.3429941openalex-snapshot

A Review on the Mechanisms of Mitochondrial Dynamics and the Relationship with Neurodegeneration

inferred← citeshttps://doi.org/10.1155/2019/2909168openalex-snapshot

Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion

inferred← citeshttps://doi.org/10.1155/2019/6392763openalex-snapshot

The Role of the Antioxidant Response in Mitochondrial Dysfunction in Degenerative Diseases: Cross-Talk between Antioxidant Defense, Autophagy, and Apoptosis

inferred← citeshttps://doi.org/10.1186/s12929-020-00628-zopenalex-snapshot

Functional Roles of Long Non-coding RNAs in Motor Neuron Development and Disease

inferred← citeshttps://doi.org/10.1186/s13024-018-0258-4openalex-snapshot

2D versus 3D human induced pluripotent stem cell-derived cultures for neurodegenerative disease modelling

inferred← citeshttps://doi.org/10.1186/s13024-021-00433-8openalex-snapshot

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction

inferred← citeshttps://doi.org/10.1186/s13041-017-0300-4openalex-snapshot

Amyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms

inferred← citeshttps://doi.org/10.1186/s40478-017-0432-xopenalex-snapshot

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

inferred← citeshttps://doi.org/10.1186/s40478-018-0600-7openalex-snapshot

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

inferred← citeshttps://doi.org/10.1186/s40478-022-01421-9openalex-snapshot

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

inferred← citeshttps://doi.org/10.1186/s40478-023-01648-0openalex-snapshot

A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons

inferred← citeshttps://doi.org/10.1186/s40478-024-01742-xopenalex-snapshot

Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca2+ and synaptic defects

inferred← citeshttps://doi.org/10.1242/dmm.049092openalex-snapshot

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos

inferred← citeshttps://doi.org/10.1242/dmm.049349openalex-snapshot

Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models

inferred← citeshttps://doi.org/10.1242/jcs.248534openalex-snapshot

Endoplasmic reticulum–mitochondria signaling in neurons and neurodegenerative diseases

inferred← citeshttps://doi.org/10.1360/n052018-00157openalex-snapshot

Mitochondrial dynamics in neurodegenerative diseases

inferred← citeshttps://doi.org/10.1371/journal.pbio.3001002openalex-snapshot

LSM12-EPAC1 defines a neuroprotective pathway that sustains the nucleocytoplasmic RAN gradient

inferred← citeshttps://doi.org/10.1515/revneuro-2023-0060openalex-snapshot

Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.1523/jneurosci.1799-22.2023openalex-snapshot

c-Jun N-Terminal Kinase Promotes Stress Granule Assembly and Neurodegeneration in C9orf72-Mediated ALS and FTD

inferred← citeshttps://doi.org/10.15252/embj.2018100574openalex-snapshot

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

inferred← citeshttps://doi.org/10.15252/embj.2020104415openalex-snapshot

ADAM17‐triggered TNF signalling protects the ageing Drosophila retina from lipid droplet‐mediated degeneration

inferred← citeshttps://doi.org/10.2139/ssrn.4890101openalex-snapshot

Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data

inferred← citeshttps://doi.org/10.2174/1574888x18666230608105703openalex-snapshot

Advances in iPSC Technology in Neural Disease Modeling, Drug Screening, and Therapy

inferred← citeshttps://doi.org/10.2217/rme-2020-0067openalex-snapshot

Modeling Als Using Ipscs: is It Possible to Reproduce the Phenotypic Variations Observed in Patients in vitro ?

inferred← citeshttps://doi.org/10.26508/lsa.202402853openalex-snapshot

Activation of the Keap1/Nrf2 pathway suppresses mitochondrial dysfunction, oxidative stress, and motor phenotypes in C9orf72 ALS/FTD models

inferred← citeshttps://doi.org/10.3233/jad-181123openalex-snapshot

Combined Transcriptomics and Proteomics in Frontal Cortex Area 8 in Frontotemporal Lobar Degeneration Linked to C9ORF72 Expansion

inferred← citeshttps://doi.org/10.3389/fcell.2021.662837openalex-snapshot

The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders

inferred← citeshttps://doi.org/10.3389/fcell.2022.1030390openalex-snapshot

Mitochondrial dysfunction of induced pluripotent stem cells-based neurodegenerative disease modeling and therapeutic strategy

inferred← citeshttps://doi.org/10.3389/fcell.2022.1089970openalex-snapshot

Progress and challenges in directing the differentiation of human iPSCs into spinal motor neurons

inferred← citeshttps://doi.org/10.3389/fcell.2022.750829openalex-snapshot

C9orf72-Derived Proline:Arginine Poly-Dipeptides Modulate Cytoskeleton and Mechanical Stress Response

inferred← citeshttps://doi.org/10.3389/fcell.2022.915931openalex-snapshot

Targeting ER-Mitochondria Signaling as a Therapeutic Target for Frontotemporal Dementia and Related Amyotrophic Lateral Sclerosis

inferred← citeshttps://doi.org/10.3389/fcell.2022.950767openalex-snapshot

Disruption of the VAPB-PTPIP51 ER-mitochondria tethering proteins in post-mortem human amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.3389/fimmu.2022.1035532openalex-snapshot

Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia

inferred← citeshttps://doi.org/10.3389/fimmu.2022.895488openalex-snapshot

Density dependent regulation of inflammatory responses in macrophages

inferred← citeshttps://doi.org/10.3389/fnagi.2021.650740openalex-snapshot

Stress Granules and Neurodegenerative Disorders: A Scoping Review

inferred← citeshttps://doi.org/10.3389/fnagi.2022.892518openalex-snapshot

Towards Understanding the Relationship Between ER Stress and Unfolded Protein Response in Amyotrophic Lateral Sclerosis

inferred← citeshttps://doi.org/10.3389/fncel.2017.00126openalex-snapshot

Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis

inferred← citeshttps://doi.org/10.3389/fncel.2017.00243openalex-snapshot

Failure to Deliver and Translate—New Insights into RNA Dysregulation in ALS

inferred← citeshttps://doi.org/10.3389/fncel.2021.637548openalex-snapshot

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD

inferred← citeshttps://doi.org/10.3389/fncel.2021.653688openalex-snapshot

The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS

inferred← citeshttps://doi.org/10.3389/fncel.2021.660693openalex-snapshot

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

inferred← citeshttps://doi.org/10.3389/fncel.2026.1731669openalex-snapshot

C9orf72-ALS mutation drives basal mitophagy impairments in iNeurons

inferred← citeshttps://doi.org/10.3389/fneur.2019.01205openalex-snapshot

Metabolic Alteration and Amyotrophic Lateral Sclerosis Outcome: A Systematic Review

inferred← citeshttps://doi.org/10.3389/fneur.2020.550140openalex-snapshot

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

inferred← citeshttps://doi.org/10.3389/fnins.2017.00591openalex-snapshot

Neuroprotective Potential of Cell-Based Therapies in ALS: From Bench to Bedside

inferred← citeshttps://doi.org/10.3389/fnins.2017.00671openalex-snapshot

Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells

inferred← citeshttps://doi.org/10.3389/fnins.2018.00086openalex-snapshot

Modeling Protein Aggregation and the Heat Shock Response in ALS iPSC-Derived Motor Neurons

inferred← citeshttps://doi.org/10.3389/fnins.2019.00486openalex-snapshot

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS

inferred← citeshttps://doi.org/10.3389/fnins.2019.00532openalex-snapshot

Motor Neuron Susceptibility in ALS/FTD

inferred← citeshttps://doi.org/10.3389/fnins.2020.00679openalex-snapshot

Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment

inferred← citeshttps://doi.org/10.3389/fnins.2020.546484openalex-snapshot

Prospects of Directly Reprogrammed Adult Human Neurons for Neurodegenerative Disease Modeling and Drug Discovery: iN vs. iPSCs Models

inferred← citeshttps://doi.org/10.3389/fnins.2021.786076openalex-snapshot

Mitochondria Dysfunction in Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: Lessons From Drosophila Models

inferred← citeshttps://doi.org/10.3389/fnins.2023.1223777openalex-snapshot

CRISPR/Cas9: implication for modeling and therapy of amyotrophic lateral sclerosis

inferred← citeshttps://doi.org/10.3389/fnins.2026.1741065openalex-snapshot

MicroRNA profiling in post-mortem spinal cord of C9ORF72-related ALS patients reveals molecular pathways involved in motor neuron degeneration

inferred← citeshttps://doi.org/10.3389/fnmol.2017.00187openalex-snapshot

The Endoplasmic Reticulum Unfolded Protein Response in Neurodegenerative Disorders and Its Potential Therapeutic Significance

inferred← citeshttps://doi.org/10.3389/fnmol.2017.00216openalex-snapshot

Fine-Tuning ER Stress Signal Transducers to Treat Amyotrophic Lateral Sclerosis

inferred← citeshttps://doi.org/10.3389/fnmol.2017.00222openalex-snapshot

The Role of BiP Retrieval by the KDEL Receptor in the Early Secretory Pathway and its Effect on Protein Quality Control and Neurodegeneration

inferred← citeshttps://doi.org/10.3389/fnmol.2022.1000183openalex-snapshot

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

inferred← citeshttps://doi.org/10.3390/antiox10020229openalex-snapshot

Power Failure of Mitochondria and Oxidative Stress in Neurodegeneration and Its Computational Models

inferred← citeshttps://doi.org/10.3390/antiox12081593openalex-snapshot

Mitochondrial Dysfunction in Repeat Expansion Diseases

inferred← citeshttps://doi.org/10.3390/antiox12112008openalex-snapshot

Pectolinarigenin Improves Oxidative Stress and Apoptosis in Mouse NSC-34 Motor Neuron Cell Lines Induced by C9-ALS-Associated Proline–Arginine Dipeptide Repeat Proteins by Enhancing Mitochondrial Fusion Mediated via the SIRT3/OPA1 Axis

inferred← citeshttps://doi.org/10.3390/antiox14060696openalex-snapshot

Oxidative Stress: Pathological Driver in Chronic Neurodegenerative Diseases

inferred← citeshttps://doi.org/10.3390/antiox6020025openalex-snapshot

Abnormalities of Mitochondrial Dynamics in Neurodegenerative Diseases

inferred← citeshttps://doi.org/10.3390/cells10123389openalex-snapshot

Parkin beyond Parkinson’s Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

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