Ontology highlight
ABSTRACT:
SUBMITTER: Rindt H
PROVIDER: S-EPMC5007659 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Rindt Hansjörg H Feng Zhihua Z Mazzasette Chiara C Glascock Jacqueline J JJ Valdivia David D Pyles Noah N Crawford Thomas O TO Swoboda Kathryn J KJ Patitucci Teresa N TN Ebert Allison D AD Sumner Charlotte J CJ Ko Chien-Ping CP Lorson Christian L CL
Human molecular genetics 20150424 14
Systemically low levels of survival motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA). α-Motor neurons of the spinal cord are considered particularly vulnerable in this genetic disorder and their dysfunction and loss cause progressive muscle weakness, paralysis and eventually premature death of afflicted individuals. Historically, SMA was therefore considered a motor neuron-autonomous disease. However, depletion of SMN in motor neurons of normal mice elicited only a very mild phe ...[more]