entity

MUTATION

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about 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.

1Connections

13Hypotheses

0Analyses

1Outgoing

0Incoming

1Experiments

0Debates

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Outgoing (1)

Target	Relation	Type	Str
THYROID_CANCER	causes	disease	0.72

Incoming (0)

Source	Relation	Type	Str
No incoming edges

Targeting Hypotheses (13)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
PD-Associated GWAS Variants in CTSO and CTSF Genes Create a	0.743	neurodegeneration	-
VCP/p97 ATPase mutations impair extraction of ubiquitinated	0.720	neurodegeneration	What are the neuron-specific effects of
VPS35 Retromer Dysfunction Creates a GCase Trafficking Bottl	0.700	neurodegeneration	-
OPTN/TBK1 mutations create selective vulnerability by blocki	0.670	neurodegeneration	What are the neuron-specific effects of
ALS-Linked OPTN/TBK1 Mutations Impair Phosphorylation Cascad	0.648	neurodegeneration	How do pathological stress granules in n

FUS Mutations Alter Stress Granule Material Properties to Co	0.613	neurodegeneration	How do pathological stress granules in n
ALS-Associated G3BP1 Mutations Shift Phase Separation Equili	0.610	neurodegeneration	How do disease-associated mutations in G
ALS-Associated G3BP1/2 Mutations Disrupt TRIM21 Binding Inte	0.585	neurodegeneration	How do pathological stress granules in n
FUS Mutations Impede G3BP1's Chaperone Function, Exposing Ne	0.430	neurodegeneration	How do disease-associated mutations in G
ubiquitylation-dependent turnover is the actionable driver i	0.344	neurodegeneration	How do ALS-linked UBQLN2 mutations affec
K48/K63 ubiquitin chain balance separates causal from compen	0.335	neurodegeneration	How do ALS-linked UBQLN2 mutations affec
proteasome shuttle failure defines the therapeutic window fo	0.327	neurodegeneration	How do ALS-linked UBQLN2 mutations affec
Freezing-of-Gait Prediction Algorithm Using GBA Mutation Sta	0.000	-	GBA-Synuclein Loop: Therapeutic Strategi

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (1)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
TRIM21 E3 ubiquitin ligase screen for stress granule regulation	exploratory	neurodegenerative diseases	0.900	0.00	cultured cells	proposed	N/A

Related Papers (16)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
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
Common Driver Mutations in AML: Biological Impact, Clinical Considerations, and [PMID:39195279]	Nong T, Mehra S, Taylor J	Cells	2024	0
Targeted therapy for lung cancer: Beyond EGFR and ALK. [PMID:37073562]	Herrera-Juárez M, Serrano-Gómez C, Bote-	Cancer	2023	0
UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD. [PMID:34273246]	Lin BC, Higgins NR, Phung TH	FEBS J	2022	0
Targeted Therapies for Lung Cancer Patients With Oncogenic Driver Molecular Alte [PMID:34985916]	Tan AC, Tan DSW	J Clin Oncol	2022	0
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers. [PMID:35948633]	Zingg D, Bhin J, Yemelyanenko J	Nature	2022	0
UBQLN proteins in health and disease with a focus on UBQLN2 in ALS/FTD. [PMID:34273246]	["Lin Brian C", "Higgins Nicole R", "Phu	The FEBS journal	2022	0
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	0
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-de [PMID:30643298]	Melamed Ze'ev; López-Erauskin Jone;	Nature neuroscience	2019	0
Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis. [PMID:30948552]	Maniatis S, Äijö T, Vickovic S, Braine C	Science (New York, N.Y.)	2019	0
Spatiotemporal dynamics of molecular pathology in amyotrophic lateral sclerosis. [PMID:30948552]	Maniatis S, Äijö T, Vickovic S, Braine C	Science (New York, N.Y.)	2019	0
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-de [PMID:30643298]	Melamed Z, López-Erauskin J, Baughn MW,	Nature neuroscience	2019	0
Human endogenous retrovirus-K contributes to motor neuron disease. [PMID:26424568]	Li W, Lee MH, Henderson L, Tyagi R, Bach	Science translational medicine	2015	0
Human endogenous retrovirus-K contributes to motor neuron disease. [PMID:26424568]	Li W, Lee MH, Henderson L, Tyagi R, Bach	Science translational medicine	2015	0
Neurotrophins and neurodegeneration. [PMID:12787319]	Dawbarn D, Allen SJ	Neuropathology and applied neu	2003	0
Neurotrophins and neurodegeneration. [PMID:12787319]	Dawbarn D, Allen SJ	Neuropathology and applied neu	2003	0

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning MUTATION in their description or question text

FUS Mutations Alter Stress Granule Material Properties to Confer Autophagy Resis

Score: 0.613 · neurodegeneration · 2026-04-22

**Molecular Mechanism and Rationale** The fundamental molecular mechanism underlying this hypothesis centers on the abe

ALS-Associated G3BP1 Mutations Shift Phase Separation Equilibrium Toward Aberran

Score: 0.610 · neurodegeneration · 2026-04-22

## Mechanistic Overview ALS-Associated G3BP1 Mutations Shift Phase Separation Equilibrium Toward Aberrant Condensate Sta

ALS-Associated G3BP1/2 Mutations Disrupt TRIM21 Binding Interfaces

Score: 0.585 · neurodegeneration · 2026-04-22

**Molecular Mechanism and Rationale** The G3BP1 and G3BP2 proteins function as critical scaffolding molecules in the fo

FUS Mutations Impede G3BP1's Chaperone Function, Exposing Neurotoxic Stress Gran

Score: 0.430 · neurodegeneration · 2026-04-22

## Mechanistic Overview FUS Mutations Impede G3BP1's Chaperone Function, Exposing Neurotoxic Stress Granule Intermediate

ubiquitylation-dependent turnover is the actionable driver in: How do ALS-linked

Score: 0.344 · neurodegeneration · 2026-04-26

The gap can be tested by treating ubiquitylation-dependent turnover as an upstream driver rather than a passive correlat

K48/K63 ubiquitin chain balance separates causal from compensatory states in: Ho

Score: 0.335 · neurodegeneration · 2026-04-26

A longitudinal biomarker panel centered on K48/K63 ubiquitin chain balance can distinguish harmful mechanisms from prote

proteasome shuttle failure defines the therapeutic window for: How do ALS-linked

Score: 0.327 · neurodegeneration · 2026-04-26

The same signal may be beneficial early and damaging late. Testing proteasome shuttle failure with autophagy flux rescue

Freezing-of-Gait Prediction Algorithm Using GBA Mutation Status

Score: 0.000 · unknown disease · 2026-04-28

Machine learning algorithms incorporating GBA mutation status, gait kinematic data, and neurophysiological markers could