US EditionJCI Mutant THAP11 causes cerebellar neurodegeneration and triggers TREM2-mediated microglial activation in mice
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“Until a couple of years ago we did not believe that blood was able to capture what was going on in the brain,” he says in an interview with EFE, Carlos Cruchaga, one of the researchers who leads this finding, distributed in five scientific articles published in Nature Medicine and Nature Aging on biomarkers that detect neurodegeneration. A database to continue advancing Cruchaga, originally from Pamplona, runs a Neorogenomics Laboratory that be…
JCI Mutant THAP11 causes cerebellar neurodegeneration and triggers TREM2-mediated microglial activation in mice
Abnormal expansions of the CAG trinucleotide repeat within specific gene exons give rise to polyglutamine (polyQ) diseases, a family of inherited disorders characterized by late-onset neurodegeneration. Recently, a new type of polyQ disease was identified and named spinocerebellar ataxia 51 (SCA51). SCA51 is caused by polyQ expansion in THAP domain containing 11 (THAP11), an essential transcription factor for brain development. The pathogenesis …
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