RESEARCH
Allen Brain Atlas
Polyglutamine diseases are dominantly inherited neurodegenerative conditions caused by an expansion of the glutamine tract in the respective disease-causing proteins. Polyglutamine expansion makes the host protein toxic, resulting in the formation of mutant protein aggregates and cell death.
We study two distinct polyglutamine diseases: Spinocerebellar Ataxia Type 1 (SCA1) and Spinal and Bulbar Muscular Atrophy (SBMA). SCA1 is a dominantly inherited disease caused by an increased number of unstable CAG repeats in the ATXN1 gene. It is characterized by the progressive degeneration of neurons, specifically those in the cerebellum and brainstem. SBMA is an X-linked progressive neuromuscular disease caused by expansion of polymorphic CAG trinucleotide repeats in the Androgen Receptor (AR) gene. There is no current cure or effective therapeutics for either of these diseases.
We also investigate the cellular and molecular mechanisms underlying pathogenesis in Alzheimer’s Disease (AD) and Alzheimer’s Disease Related Dementias (ADRD), including Frontotemporal Lobar Degeneration (FTD/FTLD) and Amyotrophic Lateral Sclerosis (ALS). We use various model systems, including mice and patient-derived stem cell models, to understand how cell-type specific protein quality control mechanisms influence neurodegenerative diseases. Our lab focuses on Granulin, which encodes a secreted glycoprotein Progranulin, and Nemo-Like Kinase (NLK), a MAPK-like serine/threonine protein kinase.
Lamp2
CatD
