Research graph
References from PAICS mediates DNA damage and cerebellar neuronal loss in C9orf72 amyotrophic lateral sclerosis. Local targets link to admitted publications; unresolved targets remain external evidence.
Amyotrophic lateral sclerosis
10.1016/s0140-6736(22)01272-7 · 2022 · External reference
Amyotrophic lateral sclerosis
10.1016/s0140-6736(17)31287-4 · 2017 · External reference
Amyotrophic lateral sclerosis
10.1056/nejmra1603471 · 2017 · External reference
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
10.1038/ejhg.2012.98 · 2013 · External reference
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
10.1016/j.neuron.2011.09.011 · 2011 · External reference
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
10.1016/j.neuron.2011.09.010 · 2011 · External reference
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
10.1016/s1474-4422(12)70043-1 · 2012 · External reference
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
10.1016/j.celrep.2013.10.049 · 2013 · External reference
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
10.1007/s00401-013-1200-z · 2013 · External reference
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers
10.1007/s00401-017-1725-7 · 2017 · External reference
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
10.1126/science.1232927 · 2013 · External reference
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
10.1126/science.1254917 · 2014 · External reference
Dipeptide repeat protein pathology in C9ORF72 mutation cases: Clinico-pathological correlations
10.1007/s00401-013-1181-y · 2013 · External reference
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
10.1002/ana.23946 · 2013 · External reference
Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model
10.1093/hmg/ddy083 · 2018 · External reference
Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD
10.1038/s41593-019-0396-1 · 2019 · External reference
Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment
10.15252/emmm.201910722 · 2020 · External reference
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
10.1016/j.neuron.2014.12.010 · 2014 · External reference
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
10.1016/j.neuron.2013.02.004 · 2013 · External reference
Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish
10.1038/s42003-021-02302-y · 2021 · External reference
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
10.1038/nm.4490 · 2018 · External reference
Loss of C9orf72 perturbs the ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse importin β-1 granules
10.1016/j.celrep.2023.112134 · 2023 · External reference
Neuroimaging to investigate multisystem involvement and provide biomarkers in amyotrophic lateral sclerosis
10.1155/2014/467560 · 2014 · External reference
Neuroimaging in amyotrophic lateral sclerosis: Insights into structural and functional changes
10.1016/s1474-4422(14)70167-x · 2014 · External reference
Amyotrophic lateral sclerosis and cerebellum
10.1038/s41598-022-16772-5 · 2022 · External reference
Patterns of cerebral and cerebellar white matter degeneration in ALS
10.1136/jnnp-2014-308172 · 2015 · External reference
Cerebellar atrophy in neurodegeneration—A meta-analysis
10.1136/jnnp-2017-315607 · 2017 · External reference
Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum
10.1371/journal.pone.0105632 · 2014 · External reference
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
10.1007/s00401-013-1192-8 · 2013 · External reference
Longitudinal diffusion tensor imaging in amyotrophic lateral sclerosis
10.1186/1471-2202-13-141 · 2012 · External reference
Diffusion tensor imaging and voxel based morphometry study in amyotrophic lateral sclerosis: Relationships with motor disability
10.1136/jnnp.2006.101758 · 2007 · External reference
Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
10.1016/j.neurobiolaging.2014.01.016 · 2014 · External reference
Patterns of regional cerebellar atrophy in genetic frontotemporal dementia
10.1016/j.nicl.2016.02.008 · 2016 · External reference
Patterns of gray matter atrophy in genetic frontotemporal dementia: Results from the GENFI study
10.1016/j.neurobiolaging.2017.10.008 · 2018 · External reference
Genotype-associated cerebellar profiles in ALS: Focal cerebellar pathology and cerebro-cerebellar connectivity alterations
10.1136/jnnp-2021-326854 · 2021 · External reference
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier
10.1007/s00401-014-1365-0 · 2015 · External reference
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
10.1093/brain/awab006 · 2021 · External reference
Assessment of psychiatric changes in C9ORF72 frontotemporal dementia
10.1186/alzrt152 · 2012 · External reference
The C9ORF72 gene, implicated in amyotrophic lateral sclerosis and frontotemporal dementia, encodes a protein that functions in control of endothelin and glutamate signaling
10.1128/mcb.00155-18 · 2018 · External reference
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
10.1007/s00401-015-1480-6 · 2015 · External reference
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
10.1186/s40478-018-0579-0 · 2018 · External reference
C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons
10.1038/nn.4407 · 2016 · External reference
Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions
10.1002/ana.24565 · 2016 · External reference
Elucidating the role of cerebellar synaptic dysfunction in C9orf72-ALS/FTD—A systematic review and meta-analysis
10.1007/s12311-021-01320-0 · 2022 · External reference
Unresolved reference
2000 · External reference
Stages of embryonic development of the zebrafish
10.1002/aja.1002030302 · 1995 · External reference
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
10.1093/brain/awad427 · 2024 · External reference
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
10.1093/braincomms/fcaf055 · 2024 · External reference
A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes
10.7554/elife.59683 · 2021 · External reference
RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum
10.1038/s41467-025-60775-5 · 2025 · External reference
NMJ analyser: A novel method to quantify neuromuscular junction morphology in zebrafish
10.1093/bioinformatics/btad720 · 2023 · External reference
A multistep workflow to evaluate newly generated iPSCs and their ability to generate different cell types
10.3390/mps4030050 · 2021 · External reference
A streamlined CRISPR workflow to introduce mutations and generate isogenic iPSCs for modeling amyotrophic lateral sclerosis
10.1016/j.ymeth.2021.09.002 · 2022 · External reference
10.64898/2025.12.08.692907
10.64898/2025.12.08.692907 · External reference
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
10.1093/brain/aws001 · 2012 · External reference
Looking beneath the surface: The importance of subcortical structures in frontotemporal dementia
10.1093/braincomms/fcab158 · 2021 · External reference
Impairments of inhibitory neurons in amyotrophic lateral sclerosis and frontotemporal dementia
10.1016/j.nbd.2024.106748 · 2024 · External reference
Amyotrophic lateral sclerosis, gene deregulation in the anterior horn of the spinal cord and frontal cortex area 8: Implications in frontotemporal lobar degeneration
10.18632/aging.101195 · 2017 · External reference
Synaptic proteomics reveal distinct molecular signatures of cognitive change and C9ORF72 repeat expansion in the human ALS cortex
10.1186/s40478-022-01455-z · 2022 · External reference
Distinct cerebral lesions in sporadic and ‘D90A’ SOD1 ALS: Studies with [11C]flumazenil PET
10.1093/brain/awh509 · 2005 · External reference
Extramotor involvement in ALS: PET studies with the GABAA ligand [11C]flumazenil
10.1093/brain/123.11.2289 · 2000 · External reference
Distribution of GABAA receptor mRNA in the motor cortex of ALS patients
10.1093/jnen/62.10.1041 · 2003 · External reference
Decreased motor cortex γ-aminobutyric acid in amyotrophic lateral sclerosis
10.1212/wnl.0b013e3182563b57 · 2012 · External reference
Distinct responses of Purkinje neurons and roles of simple spikes during associative motor learning in larval zebrafish
10.7554/elife.22537 · 2017 · External reference
Functional regionalization of the teleost cerebellum analyzed in vivo
10.1073/pnas.1403105111 · 2014 · External reference
Characterization of the zebrafish cell landscape at single-cell resolution
10.3389/fcell.2021.743421 · 2021 · External reference
10.1101/2024.10.18.618987
10.1101/2024.10.18.618987 · External reference
A multimodal zebrafish developmental atlas reveals the state-transition dynamics of late-vertebrate pluripotent axial progenitors
10.1016/j.cell.2024.09.047 · 2024 · External reference
A single-cell transcriptome atlas for zebrafish development
10.1016/j.ydbio.2019.11.008 · 2020 · External reference
The landscape of regulatory genes in brain-wide neuronal phenotypes of a vertebrate brain
10.7554/elife.68224 · 2021 · External reference
A single-cell transcriptomic atlas reveals resident dendritic-like cells in the zebrafish brain parenchyma
10.7554/elife.91427.3 · 2024 · External reference
A single-cell resolution gene expression atlas of the larval zebrafish brain
10.1126/sciadv.ade9909 · 2023 · External reference
Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum
10.1002/cne.24114 · 2017 · External reference
Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2
10.1016/j.celrep.2022.111508 · 2022 · External reference
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis
10.1093/hmg/ddad063 · 2023 · External reference
Beta-2 microglobulin is important for disease progression in a murine model for amyotrophic lateral sclerosis
10.3389/fncel.2013.00249 · 2013 · External reference
Targeting RTN4/NoGo-receptor reduces levels of ALS protein ataxin-2
10.1016/j.celrep.2022.111505 · 2022 · External reference
Evidence for GRN connecting multiple neurodegenerative diseases
10.1093/braincomms/fcab095 · 2021 · External reference
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
10.1038/ng1180 · 2003 · External reference
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
10.1073/pnas.0506580102 · 2005 · External reference
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
10.1007/s00401-024-02720-2 · 2024 · External reference
Purinergic contribution to amyotrophic lateral sclerosis
10.1016/j.neuropharm.2015.10.026 · 2016 · External reference
Integrative analysis of metabolomics and proteomics unravels purine metabolism dysregulation in the SOD1G93A mouse model of amyotrophic lateral sclerosis
10.1016/j.nbd.2023.106110 · 2023 · External reference
Accurate structure prediction of biomolecular interactions with AlphaFold 3
10.1038/s41586-024-07487-w · 2024 · External reference
Octameric structure of the human bifunctional enzyme PAICS in purine biosynthesis
10.1016/j.jmb.2006.12.027 · 2007 · External reference
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases
10.1038/s41431-024-01752-2 · 2025 · External reference
A simplified method for identifying early CRISPR-induced indels in zebrafish embryos using high resolution melting analysis
10.1186/s12864-016-2881-1 · 2016 · External reference
A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
10.1242/dmm.005538 · 2010 · External reference
Calcium channel agonists protect against neuromuscular dysfunction in a genetic model of TDP-43 mutation in ALS
10.1523/jneurosci.4003-12.2013 · 2013 · External reference
Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS
10.1093/hmg/ddt278 · 2013 · External reference
Neuromuscular junction abnormalities in a zebrafish loss-of-function model of TDP-43
10.1152/jn.00265.2018 · 2019 · External reference
A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening
2014 · External reference
Neuromuscular effects of G93A-SOD1 expression in zebrafish
10.1186/1750-1326-7-44 · 2012 · External reference
Genome-scale CRISPR-Cas9 screen identifies PAICS as a therapeutic target for EGFR wild-type non-small cell lung cancer
10.1002/mco2.483 · 2024 · External reference
PAICS contributes to gastric carcinogenesis and participates in DNA damage response by interacting with histone deacetylase 1/2
10.1038/s41419-020-2708-5 · 2020 · External reference
DNA damage and repair deficiency in ALS/FTD-associated neurodegeneration: From molecular mechanisms to therapeutic implication
10.3389/fnmol.2021.784361 · 2021 · External reference
DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations
10.1186/s40478-019-0874-4 · 2020 · External reference
DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity
10.1007/s00018-021-03872-0 · 2021 · External reference
DNA damage and Parkinson’s disease
10.3390/ijms25084187 · 2024 · External reference
DNA damage and repair in Parkinson’s disease: Recent advances and new opportunities
10.1002/jnr.24592 · 2021 · External reference
Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7
10.1016/j.celrep.2021.110062 · 2021 · External reference
The DNA damage response: Making it safe to play with knives
10.1016/j.molcel.2010.09.019 · 2010 · External reference
The DNA-damage response in human biology and disease
10.1038/nature08467 · 2009 · External reference
DNA damage repair: Historical perspectives, mechanistic pathways and clinical translation for targeted cancer therapy
10.1038/s41392-021-00648-7 · 2021 · External reference
AP endonuclease 1 (apex1) influences brain development linking oxidative stress and DNA repair
10.1038/s41419-019-1578-1 · 2019 · External reference
Nucleotide excision repair in humans
10.1016/j.dnarep.2015.09.003 · 2015 · External reference
DNA damage, defective DNA repair, and neurodegeneration in amyotrophic lateral sclerosis
10.3389/fnagi.2022.786420 · 2022 · External reference
The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis
10.1093/hmg/ddx170 · 2017 · External reference
Base-excision repair of oxidative DNA damage
10.1038/nature05978 · 2007 · External reference
Oxidative DNA damage is concurrently repaired by base excision repair (BER) and apyrimidinic endonuclease 1 (APE1)-initiated nonhomologous end joining (NHEJ) in cortical neurons
10.1111/nan.12584 · 2020 · External reference
Mismatch repair pathway, genome stability and cancer
10.3389/fmolb.2020.00122 · 2020 · External reference
The role of DNA damage response in amyotrophic lateral sclerosis
10.1042/ebc20200002 · 2020 · External reference
Metabolites of de novo purine synthesis: Metabolic regulators and cytotoxic compounds
10.3390/metabo12121210 · 2022 · External reference
C9orf72 associates with inactive rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis
10.1111/acel.13126 · 2020 · External reference
Loss of C9orf72 enhances autophagic activity via deregulated mTOR and TFEB signaling
10.1371/journal.pgen.1006443 · 2016 · External reference
mTORC1 induces purine synthesis through control of the mitochondrial tetrahydrofolate cycle
10.1126/science.aad0489 · 2016 · External reference
mTORC1 couples nucleotide synthesis to nucleotide demand resulting in a targetable metabolic vulnerability
10.1016/j.ccell.2017.09.013 · 2017 · External reference
mTORC1 stimulates nucleotide synthesis through both transcriptional and post-translational mechanisms
10.1186/2049-3002-2-s1-p6 · 2014 · External reference
Spatial colocalization and functional link of purinosomes with mitochondria
10.1126/science.aac6054 · 2016 · External reference
The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
10.1186/s13024-020-00397-1 · 2020 · External reference
TDP-43 loss of function increases TFEB activity and blocks autophagosome–lysosome fusion
10.15252/embj.201591998 · 2016 · External reference
