TDP-43 proteinopathy
E561103
TDP-43 proteinopathy is a neurodegenerative condition characterized by abnormal aggregation and mislocalization of the TDP-43 protein, commonly implicated in disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
All labels observed (1)
| Label | Occurrences |
|---|---|
| TDP-43 proteinopathy canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T6004835 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: TDP-43 proteinopathy Context triple: [C9orf72, associatedWithPathology, TDP-43 proteinopathy]
-
A.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
B.
survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
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C.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
D.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
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E.
ALS
ALS is the abbreviation for the Army Legal Services Branch, the specialist legal branch of the British Army responsible for providing legal support and advice.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: TDP-43 proteinopathy Target entity description: TDP-43 proteinopathy is a neurodegenerative condition characterized by abnormal aggregation and mislocalization of the TDP-43 protein, commonly implicated in disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
A.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
B.
survival motor neuron protein
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
-
C.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
D.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
E.
ALS
ALS is the abbreviation for the Army Legal Services Branch, the specialist legal branch of the British Army responsible for providing legal support and advice.
- F. None of above. chosen
Statements (55)
| Predicate | Object |
|---|---|
| instanceOf |
neurodegenerative disease
ⓘ
proteinopathy ⓘ |
| abbreviationOfAssociatedProtein | TDP-43 NERFINISHED ⓘ |
| affectsBrainRegion |
frontal cortex
ⓘ
hippocampus NERFINISHED ⓘ spinal cord anterior horn ⓘ temporal cortex ⓘ |
| affectsCellType |
cortical neurons
ⓘ
hippocampal neurons ⓘ motor neurons ⓘ |
| associatedWithDisease |
ALS with frontotemporal dementia
ⓘ
Alzheimer’s disease NERFINISHED ⓘ Guam parkinsonism-dementia complex NERFINISHED ⓘ HIV-associated neurocognitive disorders NERFINISHED ⓘ Perry syndrome NERFINISHED ⓘ amyotrophic lateral sclerosis ⓘ chronic traumatic encephalopathy NERFINISHED ⓘ corticobasal degeneration with TDP-43 pathology ⓘ frontotemporal dementia NERFINISHED ⓘ frontotemporal lobar degeneration ⓘ inclusion body myopathy with Paget disease and frontotemporal dementia NERFINISHED ⓘ limbic-predominant age-related TDP-43 encephalopathy NERFINISHED ⓘ |
| characterizedBy |
C-terminal fragments of TDP-43
ⓘ
TDP-43-positive cytoplasmic inclusions ⓘ abnormal aggregation of TDP-43 ⓘ abnormal phosphorylation of TDP-43 ⓘ mislocalization of TDP-43 from nucleus to cytoplasm ⓘ nuclear clearance of TDP-43 ⓘ ubiquitination of TDP-43 aggregates ⓘ |
| hasAssociatedProtein | TAR DNA-binding protein 43 NERFINISHED ⓘ |
| hasBiomarker |
TDP-43 fragments in brain tissue
ⓘ
TDP-43-positive inclusions on neuropathology ⓘ phosphorylated TDP-43 immunoreactivity ⓘ |
| hasConsequence |
behavioral changes
ⓘ
cognitive impairment ⓘ gliosis ⓘ motor dysfunction ⓘ neuron loss ⓘ |
| hasPathologyType |
ALS-TDP
NERFINISHED
ⓘ
FTLD-TDP NERFINISHED ⓘ |
| hasRiskFactor |
C9orf72 hexanucleotide repeat expansion
NERFINISHED
ⓘ
GRN gene mutations ⓘ TARDBP gene mutations ⓘ VCP gene mutations ⓘ |
| involvesProcess |
RNA metabolism dysregulation
ⓘ
aberrant stress granule dynamics ⓘ gain of toxic cytoplasmic TDP-43 function ⓘ impaired RNA splicing ⓘ impaired autophagy ⓘ impaired proteostasis ⓘ impaired ubiquitin-proteasome system ⓘ loss of nuclear TDP-43 function ⓘ protein misfolding ⓘ |
| studiedInModel |
cell culture models with TDP-43 overexpression
ⓘ
transgenic mouse models expressing mutant TDP-43 ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: TDP-43 proteinopathy Description of subject: TDP-43 proteinopathy is a neurodegenerative condition characterized by abnormal aggregation and mislocalization of the TDP-43 protein, commonly implicated in disorders such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.