Author

Laura F. DiGiovanni

Hospital for Sick ChildrenORCID 0009-0004-9037-9575Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Ami M. Perri· 1 shared Berge Arakel MinassianiD· 1 shared Cameron A. Ackerley· 1 shared Erin E. ChowniD· 1 shared Felix NitschkéiD· 1 shared Lori IsraelianiD· 1 shared Mackenzie Chown· 1 shared Mitchell Anthony SullivaniD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Ami M. Perri

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1 paper

Recent·Most cited

Molecular BiologybioRxivPreprintMar 6, 2018

Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

Mitchell Anthony Sullivan, Felix Nitschké, Erin E. Chown…·Berge Arakel Minassian

This study shows that RBCK1 deficiency in mice leads to brain polyglucosan accumulation and neurodegeneration, similar to Lafora disease but with distinct regional and subcellular features.

3 citations

mouseexperimental assay

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