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Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for

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.

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

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

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 incorporate cryptic exons. This only occurs in brain and spinal cord tissue harboring TDP-43 deposits. On...