TDP-43 proteinopathy

E561103

neurodegenerative disease proteinopathy

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).

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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 ⓘ

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.

C9orf72 → associatedWithPathology → TDP-43 proteinopathy ⓘ