Liver SMN restoration rescues the Smn mouse model of spinal muscular atrophy.

Background: The liver is a key metabolic organ, acting as a hub to metabolically connect various tissues. Spinal muscular atrophy (SMA) is a neuromuscular disorder whereby patients have an increased susceptibility to developing dyslipidaemia and liver steatosis. It remains unknown whether fatty liver is due to an intrinsic or extrinsic impact of survival motor neuron (SMN) protein depletion.

[Impact of precariousness on breast cancer care in the Île-de-France region: Results of the DESSEIN study].

Introduction: Precariousness has been associated with an increase in breast cancer mortality, but the links between precariousness, stage at diagnosis and care pathways are little explored. The objective of the DESSEIN study was to assess the impact of precariousness on disease and care pathways.

Methods: Prospective observational study in Île-de-France comparing precarious and non-precarious patients consulting for breast cancer and followed for 1 year.

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by motor neuron loss and skeletal muscle atrophy. SMA is caused by the loss of the SMN1 gene and low SMN protein levels. Current SMA therapies work by increasing SMN protein in the body.