May 1, 2023

Loss of key protein could be crucial to understanding ALS

Impactful research, Disruptive Innovation
Janice Robertson and Philip McGoldrick
Janice Robertson, left, and Philip McGoldrick, right, found that the loss of the C9orf72 protein may contribute to the underlying cause of amyotrophic lateral sclerosis and frontotemporal dementia

The lab of Dr. Janice Robertson, Professor in the Department of Laboratory Medicine and Pathobiology, has shown that loss of a key protein in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) may contribute to the underlying cause of both diseases.

In recent paper published in Cell Reports, the team discovered that the protein, known as C9orf72 (C9) and expressed by a gene with the same name, affects movement of molecules between the nucleus and the cytoplasm in the neurons affected in ALS and FTD.

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