A recent study published in the journal PLOS ONE revealed that a specific factor in the testis of spinal muscular atrophy (SMA) mice models can induce the expression of full-length SMN2 gene, potentially improving disease severity. The study is entitled “High Expression Level…
A team of Chinese researchers published their findings in the journal BMC Musculoskeletal Disorders where they show that the copy number of genes related to spinal muscular atrophy (SMA) differs between individuals and influences disease severity. The study is entitled “Molecular characterization and copy…
A collaborative international study published in the renowned journal Science revealed that specific small-molecule compounds are effective in preventing spinal muscular atrophy (SMA) progression in mouse models. The study is entitled “SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular…
A study published in the journal PLoS One revealed that members from specific protein families could be potential new targets for spinal muscular atrophy (SMA) therapies. The study is entitled, “Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells.” SMA is…
A study published in the journal Human Mutation revealed new genetic mutations in a domain of a dynein gene. The study, entitled “Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies,” unlocks new insights into motor neuron…
Shown here are spinal sections from three different mice with spinal muscular atrophy. Systemic drug treatment (middle panel) increases the presence of motor neurons (red spots) over the untreated mice (left panel). Surprisingly, the results are very similar when treatment is excluded from the central nervous system…
