Latest publication

Neurocalcin delta, a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy

Wirth Lab shows that across various SMA models (worm, zebrafish and mouse), blocking or reducing the levels of NCALD rescues SMA-derived disease pathological changes of the motor neuron (MN) and neuromuscular junction (NMJ). The team of scientist were also able to demonstrate that  a combinatorial therapy using low dose of survival motor neuron (SMN)- antisense oligonucleotides and 50% NCALD reduction, restored survival, MN and NMJ function and motor abilities in a severe SMA mouse model.

The scientist believe that results from the study “confirm that endocytosis is a major cellular mechanism perturbed in SMA and emphasize the power of protective modifiers for understanding disease mechanism and developing therapies”.

dx.doi.org/10.1016/j.ajhg.2017.01.005