Ontology highlight
ABSTRACT:
SUBMITTER: Genabai NK
PROVIDER: S-EPMC4654054 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Genabai Naresh K NK Ahmad Saif S Zhang Zhanying Z Jiang Xiaoting X Gabaldon Cynthia A CA Gangwani Laxman L
Human molecular genetics 20150930 24
Mutation of the Survival Motor Neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disorder that occurs in early childhood. Degeneration of spinal motor neurons caused by SMN deficiency results in progressive muscle atrophy and death in SMA. The molecular mechanism underlying neurodegeneration in SMA is unknown. No treatment is available to prevent neurodegeneration and reduce the burden of illness in SMA. We report that the c-Jun NH2-terminal kina ...[more]