Author

Amit Laxmikant Deshmukh

Hospital for Sick ChildrenORCID 0000-0002-4189-9601Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Organism:mouse· 1

Frequent Co-Authors

Christopher E. PearsoniD· 3 shared Jean‐Yves MassoniD· 3 shared Marie‐Christine Caron· 3 shared Gagan B. PanigrahiiD· 2 shared Mahreen KhaniD· 2 shared Peixiang WangiD· 2 shared Stella LanniiD· 2 shared Aisha FaruquiiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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3 shared papersGenetics

Christopher E. PearsonORCID

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3 papers

Recent·Most cited

NeuroscienceNature GeneticsPeer-reviewedJan 30, 2024

Cell Type Specific CAG Repeat Expansions and Toxicity of Mutant Huntingtin in Human Striatum and Cerebellum

Kärt Mätlik, Matthew Baffuto, Laura Kus…·Nathaniel Heintz

The paper investigates CAG repeat expansions and their association with cell death in specific brain regions in Huntington's disease using molecular profiling.

150 citationstop 1%

humanbulk RNA-seq

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GeneticsbioRxivPreprintOct 24, 2022

Antagonistic roles of canonical and alternative RPA in tandem CAG repeat diseases

Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic…·Christopher E. Pearson

The paper investigates the roles of canonical and alternative RPA in CAG repeat diseases, finding that Alt-RPA antagonizes RPA's suppression of CAG expansions, contributing to disease pathogenesis.

1 citation

humanmouse

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GeneticsCell ReportsPeer-reviewedDec 1, 2021

FAN1 nuclease processes and pauses on disease-associated slipped-DNA repeats: Mechanism against repeat expansions

Amit Laxmikant Deshmukh, Marie‐Christine Caron, Mohiuddin Mohiuddin…·Christopher E. Pearson

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.

30 citations

humanDNA methylation

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