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S&R Fiction: "The Electric Stairs" by Gary Marmorstein

THE ELECTRIC STAIRS  Gary Marmorstein While Ed Ritter was on the land line with the manager of Mobility Lift and Elevator, he had to keep a finger in his other ear so he could hear above the noise of the giant vacuum cleaner upstairs. “I’m sorry, sir, could you repeat that?” “I asked, if I’m…
New Jersey United States Palisades Park New York Saudi Arabia Bergen County

New Molecular Pathway Found Shared by Two Neurodegenerative Disorders

Amyotrophic lateral sclerosis and frontotemporal dementia are two neurodegenerative disorders in which many cases are linked by mislocalization of the TDP-43 protein, where instead of being located in the nucleus of the cell where genes are activated, it forms aggregates outside the nucleus in multiple neurodegenerative diseases. Rare mutations in TDP-43 are known to cause ALS, but almost all cases of ALS show mislocalization of TDP-43.
Pietro Fratta Thomas Cheever Len Petrucelli Michael Ward Aaron Gitler National Institutes Of Health

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Novel molecular pathway shared by two neurodegenerative disorders discovered

Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.
United States Stanford University United Kingdom Pietro Fratta Thomas Cheever Len Petrucelli

News | Wu Tsai Neurosciences Institute

Neuroscientists face a paradox. The field aims to understand the mysteries of the human mind, but studying the actual human brain cells and circuits that produce our mental lives—and how they go awry in neuropsychiatric disease—is incredibly challenging. After all, the brain is packed away carefully in our skulls, and people typically don’t part with samples of their brain
South Korea Hank Greely Steve Fisch Sergiu Pasca Bonnie Uytengsu Kevin Kelley Kate Edelman Johnson

Sans Nuclear TDP-43, Splicing of An ALS/FTD Gene Goes Awry

25 Apr 2021 In amyotrophic lateral sclerosis and frontotemporal dementia, loss of the RNA-binding protein TDP-43 from the nucleus creates a surge of mis-spliced mRNAs in neurons. So far, only one of these errant transcripts, stathmin-2, has been tied to disease pathology. Now, two preprints uploaded to bioRXiv on April 4 detail another—UNC13A. Variants in this gene increase risk for ALS/FTD. Neurons lacking nuclear TDP-43 mis-splice UNC13A, make less of the protein. UNC13A risk variants incor...
Johns Hopkins University United States New York Stanford University Baylor College Of Medicine Matthew Keuss

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