Fawzi Lab

Brown University

PHARMACOLOGY

Providence · United States

NIH-funded
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NIH R01 · 2024

Functional and Pathological Interactions of TDP-43

Project Summary Cellular inclusions of proteins are primary hallmarks of a great majority of neurodegenerative diseases. In common forms of amyotrophic lateral sclerosis (ALS), Alzheimer’s disease related dementias (frontotemporal dementia; limbic-predominant age-related TDP-43 encephalopathy (LATE)) as well as some forms of Alzheimer’s disease, the essential human TAR DNA binding protein of 43 kDa (TDP-43) forms intraneuronal aggregates. Importantly, dozens of missense mutations in an aggregation-prone domain of TDP-43 have been found in familial and sporadic cases of ALS and frontotemporal dementia. These data provide strong support for the direct causative pathological role for TDP-43 in…

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