entity

UBQLN2 mutation

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about UBQLN2 mutation: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

3Connections
3Hypotheses
0Analyses
2Outgoing
1Incoming
0Experiments
0Debates

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Outgoing (2)

TargetRelationTypeStr
benchmark_ot_ad_answer_key:UBQLN2 MUTATIONdata_indataset_row0.00
TDP-43 mislocalizationcausesprocess0.80

Incoming (1)

SourceRelationTypeStr
benchmark_ot_ad_answer_key:UBQLN2 MUTATIONdata_indataset_row0.00

Targeting Hypotheses (3)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
ubiquitylation-dependent turnover is the actionable driver i 0.750 neurodegeneration How do ALS-linked UBQLN2 mutations affec
K48/K63 ubiquitin chain balance separates causal from compen 0.738 neurodegeneration How do ALS-linked UBQLN2 mutations affec
proteasome shuttle failure defines the therapeutic window fo 0.723 neurodegeneration How do ALS-linked UBQLN2 mutations affec

Mentioning Analyses (0)

Scientific analyses that reference this entity

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Experiments (0)

Experimental studies targeting or related to this entity

ExperimentTypeDiseaseScoreFeasibilityModelStatusEst. Cost
No experiments found

Related Papers (20)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3B [PMID:36692217] Yang C, Wang Z, Kang Y, Yi Q, Wang T, Ba Autophagy 2023 3
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS [PMID:33031745] Yu CH, Davidson S, Harapas CR, Hilton JB Cell 2020 2
The genetics of amyotrophic lateral sclerosis. [PMID:38967083] Nijs M, Van Damme P Curr Opin Neurol 2024 1
Rsp5/NEDD4 and ESCRT regulate TDP-43 toxicity and turnover via an endolysosomal [PMID:41498748] Unknown The Journal of cell biology 2026 0
Rsp5/NEDD4 and ESCRT regulate TDP-43 toxicity and turnover via an endolysosomal [PMID:41498748] Byrd, Marmorale, Marcinowski, Dykstra, A The Journal of cell biology 2026 0
Carnitine Shuttle and Ferroptosis in Cancer. [PMID:40867868] Kim YA, Lee Y, Kim MS Antioxidants (Basel) 2025 0
Upregulation of NF-κB by USP24 aggravates ferroptosis in diabetic cardiomyopathy [PMID:38056575] Wu S, Zhou Y, Liang J Free Radic Biol Med 2024 0
Ripks and Neuroinflammation. [PMID:38349514] Xu Y, Lin F, Liao G, Sun J, Chen W, Zhan Molecular neurobiology 2024 0
The genetics of amyotrophic lateral sclerosis. [PMID:38967083] Nijs M, Van Damme P Curr Opin Neurol 2024 0
Endogenous retroviruses are dysregulated in ALS. [PMID:38989463] Pasternack, Doucet-O'Hare, Johnson, Paul iScience 2024 0
Common Driver Mutations in AML: Biological Impact, Clinical Considerations, and [PMID:39195279] Nong T, Mehra S, Taylor J Cells 2024 0
Endogenous retroviruses are dysregulated in ALS. [PMID:38989463] Unknown iScience 2024 0
Ripks and Neuroinflammation. [PMID:38349514] Xu Y, Lin F, Liao G, Sun J, Chen W, Zhan Molecular neurobiology 2024 0
Stress granule homeostasis is modulated by TRIM21-mediated ubiquitination of G3B [PMID:36692217] Yang C, Wang Z, Kang Y, Yi Q, Wang T, Ba Autophagy 2023 0
Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport [PMID:36821445] McGoldrick, Lau, You, Durcan, Robertson Cell reports 2023 0
Targeted therapy for lung cancer: Beyond EGFR and ALK. [PMID:37073562] Herrera-Juárez M, Serrano-Gómez C, Bote- Cancer 2023 0
Lipocalin 2 regulates mitochondrial phospholipidome remodeling, dynamics, and fu [PMID:37872178] Su H, Guo H, Qiu X Nat Commun 2023 0
Listerin promotes cGAS protein degradation through the ESCRT pathway to negative [PMID:38109536] Qin, Cai, Cao, Bai, Yuan et al. Proceedings of the National Ac 2023 0
Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport [PMID:36821445] Unknown Cell reports 2023 0
Listerin promotes cGAS protein degradation through the ESCRT pathway to negative [PMID:38109536] Unknown Proceedings of the National Ac 2023 0

Debates (0)

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Related Research

Hypotheses and analyses mentioning UBQLN2 mutation in their description or question text

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