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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Author profile →

3 papers

Recent·Most cited

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

Kärt Mätlik, Matthew Baffuto, Laura Kus, Amit Laxmikant Deshmukh, David A. Davis, Matthew Robert Paul, Thomas S. Carroll, Marie‐Christine Caron, Jean‐Yves Masson, Christopher E. Pearson, 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.

Nature Genetics · Jan 30, 2024Peer-reviewedNeuroscience

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

Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, David E. Leib, Vanessa Li, Rachel Harding, Stephanie Tran, Ran Chen, Hikari Tanaka, Amit Laxmikant Deshmukh, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, , 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.

bioRxiv · Oct 24, 2022 · PreprintGenetics

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

Amit Laxmikant Deshmukh, Marie‐Christine Caron, Mohiuddin Mohiuddin, Stella Lanni, Gagan B. Panigrahi, Mahreen Khan, Worrawat Engchuan, Natalie Shum, Aisha Faruqui, Peixiang Wang, Ryan K. C. Yuen, Masayuki Nakamori, Kazuhiko Nakatani, Jean‐Yves Masson, Christopher E. Pearson

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

Cell Reports · Dec 1, 2021Peer-reviewedGenetics