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Patients with amyotrophic lateral sclerosis (ALS) show higher rates of sleep apnea that is often accompanied by nocturnal hypoventilation, according to a retrospective study. Researchers also found that a method called transcutaneous capnography is able to reliably detect nocturnal hypoventilation, or insufficient breathing, in ALS patients. The…

After eight years of research, scientists have finally discovered how TDP-43 and hnRNP A1 — two proteins that have been linked to amyotrophic lateral sclerosis (ALS) — work together to promote the disease. TDP-43 was found to bind to the hnRNP A1 RNA sequence and promote production of a…

Difficulty sharing vast amounts of information — the so-called big data — can slow the pace of scientific advancement, experts say. A University of Washington team has come up with a way to help neuroscience researchers share huge swaths of MRI information about ALS and similar disorders. The information deals…

The interaction between an RNA molecule and a protein is essential for the growth of axons, the portion of movement nerve cells responsible for communicating with other nerve cells, a study reports. Researchers identified the RNA molecule as 7SK and the protein as hnRNP R. The study, “hnRNP R and its…

Three organizations that are fighting neurodegenerative disorders have teamed up to challenge researchers around the world to come up with new treatment approaches. The ALS Association, the Huntington’s Disease Society of America (HDSA) and Teva Pharmaceuticals have started the crowdsourcing effort, known as the Teva CNS Target Identification…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Scientists have discovered a key role for the ALS-linked protein known as fused in sarcoma (FUS) in a system that is crucial to regulating gene expression. The study, “FUS Regulates Activity of MicroRNA-Mediated Gene Silencing,” was published in the journal Molecular Cell. FUS is a DNA/RNA-binding protein involved in repairing…

Syracuse University researchers have obtained further insight into the protein UBQLN2, whose mutations have been associated with the development of amyotrophic lateral sclerosis (ALS). The study, “Ubiquitin Modulates Liquid-Liquid Phase Separation of UBQLN2 via Disruption of Multivalent Interactions,” was published in the journal Molecular Cell. There are many…

High levels of a protein that transports vitamin A through the body helps protect against the development and progression of ALS, a German study suggests. The protein, retinol binding protein 4 (RBP4), is secreted by fat tissue. The study’s findings suggest it is a potential target for a therapy that could…