FUS mutations

The National Institutes of Health (NIH) has awarded a $450,000 grant to a university research team to explore mutations in the FUS gene that contribute to amyotrophic lateral sclerosis (ALS), and to study genes showing a potential…

A new mutation in the FUS gene, which results in a shorter version of the FUS protein that cannot enter the cell nucleus to work as it should, may cause an aggressive from of juvenile amyotrophic lateral sclerosis (ALS), the case of an adolescent girl shows. The…

Eight patients will receive jacifusen, an experimental therapy for amyotrophic lateral sclerosis (ALS) caused by FUS gene mutations, under a joint effort from the ALS Association, Project ALS, and Columbia University’s Eleanor and Lou Gehrig ALS Center. The new clinical research program, which will be supported…

FUS protein plays a role in the proper functioning and stability of the neuromuscular junction — the site of communication between motor nerves and muscle fibers — and mutations in this protein appear to be toxic to both motor neurons and muscle cells, causing features of amyotrophic lateral sclerosis…

Neurodegeneration in a subset of amyotrophic lateral sclerosis (ALS) patients is a consequence of abnormal DNA damage responses, a finding that provides new possibilities for therapeutic interventions. About 5 percent of familial amyotrophic lateral sclerosis (fALS), and up to 1 percent of sporadic ALS (sALS), have been linked to mutations in…

​Researchers generated motor neurons from  amyotrophic lateral sclerosis (ALS) patients with a mutated gene found in familial forms of the disease. The study sheds new light on the disease mechanism. Transport of materials up and down the motors’ neuron length (axon) keeps nerve cell messages…

Mutations in the FUS gene, which are the major cause of juvenile forms of amyotrophic lateral sclerosis (ALS), are linked to the loss of motor neurons. European researchers have now found that these mutations also affect other cell types in the brain. The French-German study, “Motor neuron intrinsic and extrinsic…

Researchers have identified an essential protein, Pur-alpha, for motor neuron cells’ mechanisms of defense against external stress and degeneration and also as a potential new therapeutic target for the treatment of amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease). The research paper, “Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates…