disease 1,022 words KG: ent-dise-c9582792 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

TARDBP Mutations in Amyotrophic Lateral Sclerosis

Disease Info
InheritanceAutosomal dominant
ProteinTAR DNA-binding protein 43 (TDP-43)
FunctionRNA-binding protein involved in RNA splicing, stability, and transport
Molecular weight~414 amino acids
Key domainsN-terminal domain, RNA recognition motif (RRM), C-terminal glycine-rich domain
MajorityLocated in C-terminal glycine-rich region
EffectProtein mislocalization and aggregation
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (13)

Multi-Modal CRISPR Platform for Simultaneous Editing and Mon
Score: 0.42
Microglial AIM2 Inflammasome as the Primary Driver of TDP-43
Score: 0.60
Multiplexed Base Editing for Simultaneous Neuroprotective Ge
Score: 0.53
Acid-Degradable LNP-Mediated Prenatal CRISPR Intervention fo
Score: 0.47
Cryptic Exon Silencing Restoration
Score: 0.46

Related Analyses (20)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · archived
Microglial subtypes in neurodegeneration — friend vs foe
neuroscience · failed
CRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completed

Related Experiments (14)

TDP-43 mutant mouse model cGAS/STING pathway analysis
validation · proposed · Score: 0.90
TDP-43 mitochondrial invasion and DNA release via mPTP
exploratory · proposed · Score: 0.90
TDP-43 mitochondrial invasion and mtDNA release in iPSC moto
exploratory · proposed · Score: 0.90
cGAS/STING pathway validation in TDP-43 mutant mice
validation · proposed · Score: 0.85
cGAMP biomarker analysis in ALS patient spinal cord samples
exploratory · proposed · Score: 0.80

See Also (15)

Neurodegeneration
disease · Pages share 5 hypotheses
Therapeutic Modalities in Neurodegeneration
therapeutic · Pages share 4 hypotheses
Integrated Stress Response Modulator Therapy in Neurode
therapeutic · Pages share 4 hypotheses
CRISPR Gene Editing for Neurodegeneration
therapeutic · Pages share 4 hypotheses
CRISPR/Cas9 Gene Therapy for Neurodegeneration
therapeutic · Pages share 4 hypotheses