Joseph R Mazzulli, Ph.D.
|Title||Instructor in Neurology|
|Institution||Massachusetts General Hospital|
|Address||Massachusetts General Hospital|
Cny-114 - 114/2001
114 16th Street
Charlestown MA 02129
2012||NRSA 1 F32 NS066730-01 “Mechanisms of mutant huntingtin clearance by autophagy”|
I am interested in delineating the in vivo factors that dictate the conformational conversion of soluble disease-linked proteins into aberrant pathogenic conformations such as oligomeric intermediates and amyloid fibrils. A current focus is on the mechanistic relationship of rare genetic diseases, such as those that result from inborn errors of metabolism, to more common neurodegenerative disorders like Parkinson’s disease.
Techniques and Model Systems:
-Analytic biochemical techniques (e.g. size exclusion chromatography, etc) to determine factors that influence protein misfolding and aggregation.
-Examining protein degradation pathways in neurons with a focus on the autophagic-lysosomal clearance system.
-Use of induced pluripotent stem cells to model neurodegenerative diseases by differentiation into midbrain dopamine neurons.
-Primary neuronal cultures and transgenic mice to determine the effect of protein accumulation on neurotoxicity.
-Purification of disease related proteins to study protein aggregation in vitro.
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