concept

OPTN MUTATIONS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about OPTN MUTATIONS: 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.

31Connections

0Hypotheses

2Analyses

19Outgoing

12Incoming

0Experiments

2Debates

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💡 Concept Info

Name	OPTN MUTATIONS
Key Genes/Proteins	ALS, ALZHEIMER, ALZHEIMER'S DISEASE, AMYOTROPHIC LATERAL SCLEROSIS, FTLD, FUS
Related Diseases	Alzheimer, Amyotrophic Lateral Sclerosis, Ataxia, Huntington

Pathway Diagram

graph TD
    OPTN_MUTATIONS["OPTN MUTATIONS"]
    OPTN_MUTATIONS -->|"promotes"| neuroinflammation["neuroinflammation"]
    OPTN_MUTATIONS -->|"promotes"| neurodegeneration["neurodegeneration"]
    OPTN_MUTATIONS -->|"causes"| neuronal_loss["neuronal loss"]
    OPTN_MUTATIONS -->|"expressed in"| Alzheimer["Alzheimer"]
    OPTN_MUTATIONS -->|"expressed in"| Huntington["Huntington"]
    OPTN_MUTATIONS -->|"expressed in"| Spinocerebellar_Ataxia["Spinocerebellar Ataxia"]
    OPTN_MUTATIONS -->|"expressed in"| Ataxia["Ataxia"]
    OPTN_MUTATIONS -->|"expressed in"| NEURODEGENERATIVE_DISORDERS["NEURODEGENERATIVE DISORDERS"]
    FTLD["FTLD"] -->|"expressed in"| OPTN_MUTATIONS
    FUS["FUS"] -->|"expressed in"| OPTN_MUTATIONS
    TDP_43["TDP-43"] -->|"expressed in"| OPTN_MUTATIONS
    ALZHEIMER["ALZHEIMER"] -->|"expressed in"| OPTN_MUTATIONS
    OPTINEURIN["OPTINEURIN"] -->|"expressed in"| OPTN_MUTATIONS
    HUNTINGTON_S_DISEASE["HUNTINGTON'S DISEASE"] -->|"expressed in"| OPTN_MUTATIONS
    HUNTINGTON["HUNTINGTON"] -->|"expressed in"| OPTN_MUTATIONS
    NEURON["NEURON"] -->|"expressed in"| OPTN_MUTATIONS

Outgoing (19)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:OPTN MUTATIONS	data_in	dataset_row	0.00
als	causes	disease	0.90
neuroinflammation	promotes	process	0.85
neurodegeneration	promotes	process	0.85
neuronal loss	causes	phenotype	0.80
mitophagy impairment	causes	mechanism	0.70
mitochondrial dysfunction	causes	mechanism	0.70
Spinocerebellar Ataxia	expressed_in	disease	0.65
Ataxia	expressed_in	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Alzheimer	expressed_in	disease	0.65
Huntington	expressed_in	disease	0.65
ALS	associated_with	gene	0.60
NEURODEGENERATIVE DISORDERS	expressed_in	gene	0.60
TAU	expressed_in	gene	0.60
Tdp-43	expressed_in	pathway	0.60
Cortex	expressed_in	brain_region	0.55
Spinal Cord	expressed_in	brain_region	0.55
Neuron	expressed_in	cell_type	0.55

Incoming (12)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:OPTN MUTATIONS	data_in	dataset_row	0.00
OPTN	associated_with	gene	0.60
FUS	expressed_in	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.60
TDP-43	expressed_in	gene	0.60
ALZHEIMER	expressed_in	gene	0.60
FTLD	expressed_in	gene	0.60
HUNTINGTON'S DISEASE	expressed_in	gene	0.60
HUNTINGTON	expressed_in	gene	0.60
NEURON	expressed_in	gene	0.60
ALZHEIMER'S DISEASE	expressed_in	gene	0.60
OPTINEURIN	expressed_in	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (2)

Scientific analyses that reference this entity

How do ALS-associated OPTN mutations mechanistically disrupt Rab8a binding and c

neurodegeneration | 2026-04-14 | 1 hypotheses Top: 0.521

How do pathological stress granules in neurodegeneration escape TRIM21/autophagy

neurodegeneration | 2026-04-06 | 7 hypotheses Top: 0.717

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (2)

Multi-agent debates referencing this entity

The study shows TRIM21 and autophagy receptors can eliminate both physiological

closed · Rounds: 4 · Score: 0.75 · 2026-04-22

The authors evaluate several ALS-associated mutations in OPTN's leucine-zipper d

closed · Rounds: 4 · Score: 0.95 · 2026-04-16

Related Research

Hypotheses and analyses mentioning OPTN MUTATIONS in their description or question text

No additional research found