Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0010200 (
cough
)
23,843
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of functional
SMN
protein because of mutations in SMN1. A decrease in
SMN
activity results in motor neuron cell loss in the spinal cord, leading to a weakness of the proximal muscles responsible for crawling, walking, head/neck control and swallowing as well as the involuntary muscles that control breathing and
coughing
. Thus, patients present with pulmonary manifestations, paralysis and a shortened lifespan. Gene therapy is emerging as a promising therapeutic strategy for SMA given that the molecular basis for this monogenic disorder is well established. Recent advances and findings from preclinical studies in animal models provide optimism that gene therapy might be an effective therapeutic strategy for treating SMA.
...
PMID:Prospects for the gene therapy of spinal muscular atrophy. 2133 76
