On the public citation graph

ALS-Associated Exitron Splicing Produces UBQLN2 Isoforms with Distinct Properties

https://doi.org/10.2139/ssrn.7435655
0 signed · 106 inferred · view as graph

Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

Is this your work? Sign in with ORCID and put your name on the claims that are yours.
Claim with ORCID
Reference health. See whether every reference in this work resolves to a known work and none has been retracted — and get a dated CiteStamped badge you can embed.
See reference health

What this work says

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

inferredcites →https://doi.org/10.1002/(sici)1522-2683(19990101)20:4/5<1082::aid-elps1082>3.0.co;2-#openalex-snapshot
A novel isoform ratio switch of the polypyrimidine tract binding protein
inferredcites →https://doi.org/10.1002/acn3.755openalex-snapshot
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
inferredcites →https://doi.org/10.1002/pro.4128openalex-snapshot
Previously uncharacterized interactions between the folded and intrinsically disordered domains impart asymmetric effects on UBQLN2 phase separation
inferredcites →https://doi.org/10.1002/wsbm.1606openalex-snapshot
Potential role of exitron‐containing homeobox genes in cancer
inferredcites →https://doi.org/10.1007/s00018-019-03394-wopenalex-snapshot
Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress
inferredcites →https://doi.org/10.1007/s00401-014-1367-yopenalex-snapshot
Pathogenic Ubqln2 gains toxic properties to induce neuron death
inferredcites →https://doi.org/10.1007/s13311-015-0338-xopenalex-snapshot
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets
inferredcites →https://doi.org/10.1016/0896-6273(88)90166-3openalex-snapshot
Expression of the Alzheimer amyloid precursor gene transcripts in the human brain
inferredcites →https://doi.org/10.1016/j.biocel.2020.105821openalex-snapshot
“STRESSED OUT”: The role of FUS and TDP-43 in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1016/j.cell.2016.07.001openalex-snapshot
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome
inferredcites →https://doi.org/10.1016/j.ebiom.2022.104272openalex-snapshot
Landscape of exitrons in gastric cancer
inferredcites →https://doi.org/10.1016/j.jbc.2021.101049openalex-snapshot
Fused in sarcoma regulates DNA replication timing and kinetics
inferredcites →https://doi.org/10.1016/j.jbc.2025.110857openalex-snapshot
DNA-damage dependent isoform switching modulates RIF1 DNA repair complex assembly and phase separation
inferredcites →https://doi.org/10.1016/j.mcn.2011.11.006openalex-snapshot
Transcript expression levels of full-length alpha-synuclein and its three alternatively spliced variants in Parkinson's disease brain regions and in a transgenic mouse model of alpha-synuclein overexpression
inferredcites →https://doi.org/10.1016/j.molcel.2005.06.015openalex-snapshot
Regulation of Fas Alternative Splicing by Antagonistic Effects of TIA-1 and PTB on Exon Definition
inferredcites →https://doi.org/10.1016/j.molcel.2009.12.003openalex-snapshot
Genome-wide Analysis of PTB-RNA Interactions Reveals a Strategy Used by the General Splicing Repressor to Modulate Exon Inclusion or Skipping
inferredcites →https://doi.org/10.1016/j.molcel.2009.12.004openalex-snapshot
RNA Processing: Redrawing the Map of Charted Territory
inferredcites →https://doi.org/10.1016/j.molcel.2018.02.004openalex-snapshot
Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions
inferredcites →https://doi.org/10.1016/j.molcel.2021.03.028openalex-snapshot
A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes
inferredcites →https://doi.org/10.1016/j.nbd.2020.105016openalex-snapshot
Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity
inferredcites →https://doi.org/10.1016/j.nbd.2025.107127openalex-snapshot
A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2012.04.005openalex-snapshot
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2012.05.008openalex-snapshot
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2012.07.002openalex-snapshot
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
inferredcites →https://doi.org/10.1016/j.neurobiolaging.2017.06.018openalex-snapshot
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis
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.2013.07.033openalex-snapshot
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
inferredcites →https://doi.org/10.1016/j.neuron.2023.09.014openalex-snapshot
Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development
inferredcites →https://doi.org/10.1016/j.scr.2018.101365openalex-snapshot
Generation of seven induced pluripotent stem cell lines from neonates of different ethnic backgrounds
inferredcites →https://doi.org/10.1016/j.str.2019.03.012openalex-snapshot
ALS-Linked Mutations Affect UBQLN2 Oligomerization and Phase Separation in a Position- and Amino Acid-Dependent Manner
inferredcites →https://doi.org/10.1016/s1097-2765(00)00040-xopenalex-snapshot
The hPLIC Proteins May Provide a Link between the Ubiquitination Machinery and the Proteasome
inferredcites →https://doi.org/10.1016/s1474-4422(24)00517-9openalex-snapshot
Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications
inferredcites →https://doi.org/10.1021/bi011892yopenalex-snapshot
Structural Studies of the Interaction between Ubiquitin Family Proteins and Proteasome Subunit S5a
inferredcites →https://doi.org/10.1038/31508openalex-snapshot
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
inferredcites →https://doi.org/10.1038/331528a0openalex-snapshot
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease
inferredcites →https://doi.org/10.1038/362059a0openalex-snapshot
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1038/embor.2008.238openalex-snapshot
PLIC proteins or ubiquilins regulate autophagy‐dependent cell survival during nutrient starvation
inferredcites →https://doi.org/10.1038/nature07509openalex-snapshot
Alternative isoform regulation in human tissue transcriptomes
inferredcites →https://doi.org/10.1038/nature10353openalex-snapshot
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
inferredcites →https://doi.org/10.1038/nature11247openalex-snapshot
An integrated encyclopedia of DNA elements in the human genome
inferredcites →https://doi.org/10.1038/ncomms16063openalex-snapshot
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits
inferredcites →https://doi.org/10.1038/nn.3584openalex-snapshot
State of play in amyotrophic lateral sclerosis genetics
inferredcites →https://doi.org/10.1038/nrdp.2017.4openalex-snapshot
Neurofibromatosis type 1
inferredcites →https://doi.org/10.1038/s41467-020-20481-wopenalex-snapshot
Structure of SRSF1 RRM1 bound to RNA reveals an unexpected bimodal mode of interaction and explains its involvement in SMN1 exon7 splicing
inferredcites →https://doi.org/10.1038/s41467-023-38273-3openalex-snapshot
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
inferredcites →https://doi.org/10.1038/s41556-019-0281-xopenalex-snapshot
Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification
inferredcites →https://doi.org/10.1038/s41583-023-00717-6openalex-snapshot
Alternative splicing in neurodegenerative disease and the promise of RNA therapies
inferredcites →https://doi.org/10.1038/s41586-022-04424-7openalex-snapshot
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
inferredcites →https://doi.org/10.1038/s41586-022-04436-3openalex-snapshot
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
inferredcites →https://doi.org/10.1038/s41593-018-0293-zopenalex-snapshot
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
inferredcites →https://doi.org/10.1038/s41593-018-0300-4openalex-snapshot
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
inferredcites →https://doi.org/10.1038/s41593-025-02039-5openalex-snapshot
Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD
inferredcites →https://doi.org/10.1038/s41593-026-02226-yopenalex-snapshot
UBQLN2 links proteotoxicity with lipid metabolism in neurodegeneration
inferredcites →https://doi.org/10.1038/s41598-024-55582-9openalex-snapshot
Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity
inferredcites →https://doi.org/10.1038/s44318-026-00745-9openalex-snapshot
ALS mutations disrupt self-association between the ubiquilin STI1 hydrophobic groove and internal placeholder sequences
inferredcites →https://doi.org/10.1042/bcj20190497openalex-snapshot
Structure, dynamics and functions of UBQLNs: at the crossroads of protein quality control machinery
inferredcites →https://doi.org/10.1042/bst20120091openalex-snapshot
Tau alternative splicing in familial and sporadic tauopathies
inferredcites →https://doi.org/10.1042/bst20253053openalex-snapshot
UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential
inferredcites →https://doi.org/10.1056/nejm200105313442207openalex-snapshot
Amyotrophic Lateral Sclerosis
inferredcites →https://doi.org/10.1073/pnas.1221891110openalex-snapshot
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease
inferredcites →https://doi.org/10.1073/pnas.1423573112openalex-snapshot
Network-based metaanalysis identifies HNF4A and PTBP1 as longitudinally dynamic biomarkers for Parkinson’s disease
inferredcites →https://doi.org/10.1073/pnas.1810522115openalex-snapshot
Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly
inferredcites →https://doi.org/10.1073/pnas.1917371117openalex-snapshot
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function
inferredcites →https://doi.org/10.1073/pnas.95.13.7737openalex-snapshot
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
inferredcites →https://doi.org/10.1074/jbc.m112.449199openalex-snapshot
A Ubiquitin-like Domain Recruits an Oligomeric Chaperone to a Retrotranslocation Complex in Endoplasmic Reticulum-associated Degradation
inferredcites →https://doi.org/10.1074/jbc.m113.497974openalex-snapshot
The RNA-binding Protein Fused in Sarcoma (FUS) Functions Downstream of Poly(ADP-ribose) Polymerase (PARP) in Response to DNA Damage
inferredcites →https://doi.org/10.1074/jbc.ra120.015960openalex-snapshot
Global proteomics of Ubqln2-based murine models of ALS
inferredcites →https://doi.org/10.1093/aobpla/plae014openalex-snapshot
Exitrons: offering new roles to retained introns—the novel regulators of protein diversity and utility
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/brain/122.8.1539openalex-snapshot
Autosomal dominant juvenile amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1093/brain/awae140openalex-snapshot
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia
inferredcites →https://doi.org/10.1093/hmg/8.8.1529openalex-snapshot
Aberrant Splicing in the Presenilin-1 Intron 4 Mutation Causes Presenile Alzheimer's Disease by Increased A 42 Secretion
inferredcites →https://doi.org/10.1093/hmg/ddq231openalex-snapshot
Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy
inferredcites →https://doi.org/10.1093/hmg/ddu575openalex-snapshot
Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1093/hmg/ddx403openalex-snapshot
Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS
inferredcites →https://doi.org/10.1101/2021.04.21.440736openalex-snapshot
A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell lines
inferredcites →https://doi.org/10.1101/gad.1558107openalex-snapshot
A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons
inferredcites →https://doi.org/10.1101/gad.188037.112openalex-snapshot
Coordinated regulation of neuronal mRNA steady-state levels through developmentally controlled intron retention
inferredcites →https://doi.org/10.1101/gr.186585.114openalex-snapshot
Unmasking alternative splicing inside protein-coding exons defines exitrons and their role in proteome plasticity
inferredcites →https://doi.org/10.1101/gr.251405.119openalex-snapshot
Identification of FMR1-regulated molecular networks in human neurodevelopment
inferredcites →https://doi.org/10.1111/bpa.13230openalex-snapshot
Distribution of ubiquilin 2 and TDP ‐43 aggregates throughout the CNS in UBQLN2 p. T487I ‐linked amyotrophic lateral sclerosis and frontotemporal dementia
inferredcites →https://doi.org/10.1111/cns.13757openalex-snapshot
Amyotrophic lateral sclerosis (ALS) linked mutation in Ubiquilin 2 affects stress granule assembly via TIA‐1
inferredcites →https://doi.org/10.1111/febs.16129openalex-snapshot
UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD
inferredcites →https://doi.org/10.1111/j.1471-4159.2010.07097.xopenalex-snapshot
In vivo regulation of amyloid precursor protein neuronal splicing by microRNAs
inferredcites →https://doi.org/10.1111/jnc.12606openalex-snapshot
Pathogenic mutation of UBQLN 2 impairs its interaction with UBXD 8 and disrupts endoplasmic reticulum‐associated protein degradation
inferredcites →https://doi.org/10.1126/science.1114066openalex-snapshot
Structure of PTB Bound to RNA: Specific Binding and Implications for Splicing Regulation
inferredcites →https://doi.org/10.1126/science.1154584openalex-snapshot
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
inferredcites →https://doi.org/10.1126/science.1165942openalex-snapshot
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
inferredcites →https://doi.org/10.1126/science.1166066openalex-snapshot
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
inferredcites →https://doi.org/10.1126/science.aab0983openalex-snapshot
TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD
inferredcites →https://doi.org/10.1159/000015588openalex-snapshot
Assignment 1 of Ubiquilin2 (UBQLN2) to human chromosome Xp11.23→p11.1 by GeneBridge radiation hybrids
inferredcites →https://doi.org/10.1186/1471-2105-12-323openalex-snapshot
RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome
inferredcites →https://doi.org/10.1186/1471-2148-14-63openalex-snapshot
The ubiquilin gene family: evolutionary patterns and functional insights
inferredcites →https://doi.org/10.1186/s13024-021-00475-yopenalex-snapshot
SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.15252/embj.201593791openalex-snapshot
Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants
inferredcites →https://doi.org/10.15252/emmm.201505846openalex-snapshot
Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotides
inferredcites →https://doi.org/10.1631/jzus.b1900422openalex-snapshot
Roles of PTBP1 in alternative splicing, glycolysis, and oncogensis
inferredcites →https://doi.org/10.2131/jts.36.569openalex-snapshot
Analysis of altered gene expression specific to embryotoxic chemical treatment during embryonic stem cell differentiation into myocardiac and neural cells
inferredcites →https://doi.org/10.3109/10409238.2012.691456openalex-snapshot
Neuronal regulation of pre-mRNA splicing by polypyrimidine tract binding proteins, PTBP1 and PTBP2
inferredcites →https://doi.org/10.3389/fgene.2018.00712openalex-snapshot
RNA Dysregulation in Amyotrophic Lateral Sclerosis
inferredcites →https://doi.org/10.3390/ijms231911333openalex-snapshot
Damaged DNA Is an Early Event of Neurodegeneration in Induced Pluripotent Stem Cell-Derived Motoneurons with UBQLN2P497H Mutation
inferredcites →https://doi.org/10.3390/ijms241311218openalex-snapshot
Reviewing PTBP1 Domain Modularity in the Pre-Genomic Era: A Foundation to Guide the Next Generation of Exploring PTBP1 Structure–Function Relationships
inferredcites →https://doi.org/10.3390/ijms252413448openalex-snapshot
Chronic Oxidative Stress and Stress Granule Formation in UBQLN2 ALS Neurons: Insights into Neuronal Degeneration and Potential Therapeutic Targets
inferredcites →https://doi.org/10.7554/elife.01201openalex-snapshot
The splicing regulator PTBP2 controls a program of embryonic splicing required for neuronal maturation
inferredcites →https://doi.org/10.7554/elife.84382openalex-snapshot
Axon guidance genes modulate neurotoxicity of ALS-associated UBQLN2
Editorial review for independent work. ICSAC — the Institute for Complexity Science and Advanced Computing — runs a structured editorial panel for researchers publishing outside journals, and publishes on CiteStamp rails. Submission is free and goes through ORCID: icsacinstitute.org/submit.