Current Appointments & Affiliations
Adjunct Professor in the Department of Neurology
·
2020 - Present
Neurology, Behavioral Neurology,
Neurology
Recent Publications
Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7.
Journal Article Neuron · February 19, 2020 Sirtuin 1 (Sirt1) is a NAD+-dependent deacetylase capable of countering age-related neurodegeneration, but the basis of Sirt1 neuroprotection remains elusive. Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG-polyglutamine repeat disorder. Transcrip ... Full text Link to item CiteTFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities.
Journal Article Neurobiol Dis · February 2019 Two decades ago, the recognition of protein misfolding and aggregate accumulation as defining features of neurodegenerative disease set the stage for a thorough examination of how protein quality control is maintained in neurons and in other non-neuronal c ... Full text Link to item CiteMetabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.
Journal Article Cell Rep · January 29, 2019 Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and magnetic resonance spectro ... Full text Link to item CiteRecent Grants
SCA7 neurodegeneration: Molecular epigenetic basis and therapy
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2002 - 2023Control of Astrocyte Function by Parkinsonism Gene LRRK2
ResearchCo-Principal Investigator · Awarded by Michael J. Fox Foundation for Parkinson's Research · 2019 - 2021Super-resolution Imaging via Multiple Modalities with the Zeiss Elyra 7
EquipmentMajor User · Awarded by National Institutes of Health · 2020 - 2021View All Grants
Education, Training & Certifications
University of Pennsylvania, School of Medicine ·
1993
M.D.
University of Pennsylvania, School of Medicine ·
1993
Ph.D.