Ontology highlight
ABSTRACT:
SUBMITTER: Dimitriadi M
PROVIDER: S-EPMC4968725 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Dimitriadi Maria M Derdowski Aaron A Kalloo Geetika G Maginnis Melissa S MS O'Hern Patrick P Bliska Bryn B Sorkaç Altar A Nguyen Ken C Q KC Cook Steven J SJ Poulogiannis George G Atwood Walter J WJ Hall David H DH Hart Anne C AC
Proceedings of the National Academy of Sciences of the United States of America 20160711 30
Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of numerous ribonucleoprotein complexes, yet it is still unclear how reduced SMN levels affect motor neuron function. Here, we examined the impact of SMN depletion in Caenorhabditis elegans and found that decreased function of the SMN ortholog SMN-1 perturbed endocytic pathways at ...[more]