Author Archives: Patricia Inacio PhD

A study entitled “Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy” suggests Calreticulin and GRP75/Mortalin as new protein biomarkers for spinal muscular atrophy progression. The results were published in October 2013 issue of…

New insights into SMA are shedding light on the genetics that underscore the development of the disease. In a recent study entitled “EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia,” the authors found mutations in…

A recent study entitled “Analysis of the C9orf72 gene in spinal muscular atrophy patients” published in the Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations journal shows no association between a ALS  hexanucleotide repeat in the C9orf72 gene with SMA phenotype. Two of the most…

A recent study entitled “SMN regulates axonal local translation via miR-183/mTOR pathway” and published in Human Molecular Genetics journal identifies a new SMN regulated target – the miR-183/mTOR pathway – that contributes to Spinal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is…

Viable treatments for SMA remain elusive. However, researchers have recently made a series of impressive discoveries in treating the disease while experimenting on mice. These early successes could eventually translate into human therapies that will come to positively treat the disease in the future. A…

Two recent research projects involving studies into Spinal Muscular Atrophy are shedding new light on the deadly condition, which could in turn lead to viable next-generation therapies. The first new study, entitled, “SMA-causing missense mutations in survival motor neuron (Smn) display a wide range…

Loss of motor function, a short lifespan, and high mortality rate make spinal muscular atrophy a rare yet deadly disease for infants and children. Combined with the fact that no viable FDA-approved treatment currently exists for the disease, SMA has one of the most dire unmet…

A recent study entitled “iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1” published in Stem Cell Reports suggests therapeutic potential of neural stem cells (NSCs) from human-induced pluripotent…

In a recent study entitled “Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients,” the authors characterized stem cells and motor neuron derivatives from patients with spinal and bulbar muscular atrophy. The study, which was published in the Neurobiology…

Spinal muscular atrophy is a disease characterized by a short lifespan and progressive, debilitating symptoms. New research on mice, however, suggests that scientists may in the early stages of developing a new treatment that could eventually extend survival rates in children with SMA. A new…