Ontology highlight
ABSTRACT:
SUBMITTER: Szunyogova E
PROVIDER: S-EPMC5048144 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Szunyogova Eva E Zhou Haiyan H Maxwell Gillian K GK Powis Rachael A RA Muntoni Francesco F Gillingwater Thomas H TH Parson Simon H SH
Scientific reports 20161004
Spinal Muscular Atrophy (SMA) is caused by mutation or deletion of the survival motor neuron 1 (SMN1) gene. Decreased levels of, cell-ubiquitous, SMN protein is associated with a range of systemic pathologies reported in severe patients. Despite high levels of SMN protein in normal liver, there is no comprehensive study of liver pathology in SMA. We describe failed liver development in response to reduced SMN levels, in a mouse model of severe SMA. The SMA liver is dark red, small and has: iron ...[more]