Statements (78)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:associated_with |
gptkb:muscular_dystrophy
|
| gptkbp:code |
survival motor neuron protein
|
| gptkbp:discovered_by |
1990s
|
| gptkbp:genetic_studies |
spinal muscular atrophy patients
|
| gptkbp:has_copy_number |
variable in individuals
|
| gptkbp:has_function |
neuronal survival
|
| gptkbp:has_homolog |
gptkb:SMN1_gene
|
| gptkbp:has_impact_on |
muscle function
|
| gptkbp:has_role |
RNA processing
|
| gptkbp:has_variants |
gptkb:SMN1_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
SMN2 gene
|
| gptkbp:is_analyzed_in |
clinical trials
|
| gptkbp:is_associated_with |
disease progression
treatment response respiratory function neuromuscular function clinical outcomes in SMA survival rates in SMA patients |
| gptkbp:is_essential_for |
motor neuron health
|
| gptkbp:is_examined_in |
biomedical research
clinical assessments genetic counseling pharmacogenomics clinical trials for SMA therapies |
| gptkbp:is_expressed_at |
low levels in most tissues
|
| gptkbp:is_expressed_in |
gptkb:embryonic_development
motor neurons peripheral nervous system brain tissue skeletal muscle adult tissues spinal cord embryonic stem cells neural tissues |
| gptkbp:is_involved_in |
cell differentiation
cellular homeostasis cellular metabolism cellular stress response cell signaling pathways protein-protein interactions neurodevelopmental processes cellular repair mechanisms axon growth m RNA splicing protein assembly |
| gptkbp:is_linked_to |
gptkb:neurodegenerative_diseases
patient quality of life cognitive function patient demographics muscle atrophy therapeutic efficacy genetic variability |
| gptkbp:is_part_of |
gptkb:SMN_complex
genetic research collaborations neuroprotective strategies therapeutic protocols SMA research initiatives genetic research studies genetic testing for SMA |
| gptkbp:is_regulated_by |
transcription factors
|
| gptkbp:is_related_to |
autosomal recessive inheritance
|
| gptkbp:is_studied_for |
therapeutic interventions
therapeutic strategies gene editing techniques longitudinal studies molecular mechanisms treatment of spinal muscular atrophy biomarker development therapeutic outcomes. |
| gptkbp:is_targeted_at |
gptkb:CRISPR_technology
small molecules antisense oligonucleotides gene silencing techniques |
| gptkbp:located_in |
human chromosome 5
|
| gptkbp:targets |
gptkb:gene_therapy
|
| gptkbp:bfsParent |
gptkb:Nusinersen
|
| gptkbp:bfsLayer |
5
|