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You are here: Home / Events / Dr. Laura P.W. Ranum: "Targeting RAN proteins improves phenotypes in C9orf72 BAC ALS/FTD mice"

Dr. Laura P.W. Ranum: "Targeting RAN proteins improves phenotypes in C9orf72 BAC ALS/FTD mice"

Director, Center for NeuroGenetics Kitzman Family Professor of Molecular Genetics and Microbiology College of Medicine University of Florida Gainesville, FL, USA Email: ranum@ufl.edu https://neurogenetics.med.ufl.edu/faculty/dr-laura-p-w-ranum/
When Apr 01, 2019
from 12:00 PM to 01:30 PM
Where CNR Conference Room
Contact Name
Contact Phone +39 0816132261
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I have a long-term interest and track record in gene discovery and the generation of mouse models to understand the molecular mechanisms of neurodegenerative disorders.  My laboratory identified the mutations for a number of neurological disorders including myotonic dystrophy type 2, spinocerebellar ataxia type 5 and spinocerebellar ataxia type 8.  We have developed mouse models to understand the molecular mechanisms of these and other mutations including the C9orf72 ALS/FTD mutation. Over the years, our work on SCA8 and DM1 has led to two discoveries that have changed our understanding of how microsatellite expansion mutations are expressed.  First, we demonstrated the SCA8 expansion mutations can be bidirectionally expressed (Moseley et al., 2006) and second that SCA8 and DM1 expansion mutations can express proteins in all three reading frames without an AUG-initiation codon through a novel process we named repeat associated non-ATG (RAN) translation (Zu et al., 2011).  These findings have changed our understanding of how microsatellite expansion mutations are expressed. More recently, we and others have demonstrated that bidirectional transcription and RAN translation are also found in C9orf72 ALS/FTD and a number of other disorders. My laboratory has generated a BAC transgenic model of ALS/FTD that develops key features of the disease including the molecular, neurodegenerative and behavioral phenotypes of ALS/FTD. These mice are an important tool for understanding the basic biology of ALS and for the development of biomarkers and therapeutic strategies.
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