disease 3,458 words KG: ent-dise-93f3d65f 2026-03-24
kind:diseasesection:diseasesstate:publishedevidence:strong
Contents

Amyotrophic Lateral Sclerosis (ALS)

Disease Info
UNC13AVariants in this gene modify disease progression and survival in ALS[@diekstra2012]
ATXN2Intermediate CAG repeats increase ALS risk approximately 2-fold[@soraru2013]
DAXXRecent GWAS has identified this gene as a novel ALS risk factor[@van2023]
Loss of motor neuronsProgressive death ofcortical and spinal motor neurons with accompanying gliosis[@charcot1969]
Bunina bodiesSmall, intracytoplasmic inclusions found in approximately 70% of cases[@bunina1962]
TDP-43 inclusionsUbiquitinated inclusions containing phosphorylated TDP-43 in approximately 95% of ALS cases (both sporadic and most familial forms except SOD1)[@arai2006]
Dystrophic neuritesAbnormal neuronal processes surrounding inclusion bodies[@dickson2007]
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (30)

Context-Dependent CRISPR Activation in Specific Neuronal Sub
Score: 0.51
Synthetic Biology Approach: Designer Mitochondrial Export Sy
Score: 0.36
p38α Inhibitor and PRMT1 Activator Combination to Restore Ph
Score: 0.61
HSPB1 Phosphorylation Mimetics to Promote Protective TDP-43
Score: 0.60
Circadian-Synchronized Proteostasis Enhancement
Score: 0.58

Related Analyses (26)

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 (30)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
cGAS/STING pathway activation by TDP-43-released mtDNA
exploratory · proposed · Score: 0.95
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