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Karissa Barthelson

As seen in: Nature, PLOS, BioRxiv
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Articles

DNAJC6 Parkinson’s disease: Endolysosomal dysfunction and emerging roles for oligodendrocytes

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By Angel Allen, Sarah J. Stednitz, Michael Lardelli, Karissa Barthelson
| Nature Verified
Abstract DNAJC6 encodes auxilin, which is predominantly expressed in neurons and oligodendrocytes. It is involved in clathrin uncoating following clathrin-mediated endocytosis (CME), and loss-of-function genetic variants have been linked to juvenile- and early-onset forms of Parkinson’s disease (PD). Here, we review the genetics and function of the DNAJC6 gene and discuss potential roles it may play in PD.
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Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis

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By Lachlan Baer, Karissa Barthelson, Bedford Park, John Postlethwait
| PLOS
Introduction Morphologies of chromosomes change over evolutionary timescales due to the processes of translocation, inversion, duplication, and deletion. These processes change the order of genes along a chromosome, and so change the interactions between those genes.
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Transcriptome analysis of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveals commonalities in disease mechanisms

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By Karissa Barthelson, Kim Hemsley, Michael Lardelli
| BioRxiv
Abstract Background: Autosomal recessive inheritance of Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) causes childhood dementia, while Alzheimer's disease is the most common type of adult-onset dementia. There are no approved treatments for Sanfilippo patients, and few options exist for those with Alzheimer's disease. Increasing evidence suggests commonalities in the disease processes. However, a direct comparison of animal models with the two disorders has never been performed.
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