Ontology highlight
ABSTRACT:
SUBMITTER: Iyer CC
PROVIDER: S-EPMC4599674 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Iyer Chitra C CC McGovern Vicki L VL Murray Jason D JD Gombash Sara E SE Zaworski Phillip G PG Foust Kevin D KD Janssen Paul M L PM Burghes Arthur H M AH
Human molecular genetics 20150813 21
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons. SMA is caused by deletion or mutation of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The loss of SMN1 results in reduced levels of the SMN protein. SMN levels appear to be particularly important in motor neurons; however SMN levels above that produced by two copies of SMN2 have been suggested to be important in muscle. Studying the spatial requirement of SMN ...[more]