Author

Mika Aoyagi-Scharber

BioMarin (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:proteomics· 1 Organism:rat· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Jonathan H. LeBowitziD· 2 shared Amanda R. Luu· 1 shared Brett E. CrawfordiD· 1 shared Bryan K. Yip· 1 shared Gouri YogalingamiD· 1 shared Guoying Karen YuiD· 1 shared Heather Prill· 1 shared John Holtzinger· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Jonathan H. LeBowitzORCID

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2 papers

Recent·Most cited

GeneticsPLoS ONEPeer-reviewedJan 18, 2019

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.

Gouri Yogalingam, Amanda R. Luu, Heather Prill…·Jonathan H. LeBowitz

This study characterizes two distinct cellular uptake mechanisms for BMN 250 in Sanfilippo B disease, showing CI-MPR-mediated uptake in neurons and astrocytes and receptor-independent uptake in microglia.

20 citations

ratproteomics

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BioinformaticsPLoS ONEPeer-reviewedJul 6, 2018

Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence

Wyatt Travis Clark, Guoying Karen Yu, Mika Aoyagi-Scharber, Jonathan H. LeBowitz

The paper estimates the contribution of variants of unknown significance to Sanfilippo Type B incidence using functional activity data and population allele frequencies.

18 citations

humanwhole-exome sequencing

𝕏 PostBluesky