Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease: Bioinformatic Prioritisation and Hit Validation

By Karishma D’Sa, MSc, Sebastian Guelfi, David Zhang, MSc, Alan Pittman, Daniah Trabzuni, Demis A. Kia, Nicholas W Wood, John Hardy, PhD, Claudia Manzoni, PhD, Mina Ryten and Benjamin O’Callaghan, PhD
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Output Details

Description
This protocol describes the Bioinformatic Prioritisation of PD GWAS candidates for High Content Screening, and Hit Validation by allele-specific expression (ASE) analysis.
Identifier (DOI)
10.1101/2020.01.06.896241v2
Tags
  • High Content Screening
  • Parkinson's disease
  • Substantia nigra
Team
Team Wood and Team Hardy
Program
Collaborative Research Network
Theme
PD Functional Genomics

Meet the Authors

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    Karishma D’Sa, MSc

    Key Personnel: Team Wood,  Team Hardy, 

    University College London

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    Sebastian Guelfi

  • David Zhang, MSc

    Key Personnel: Team Wood, 

    University College London

  • User avatar fallback logo

    Alan Pittman

  • User avatar fallback logo

    Daniah Trabzuni

  • User avatar fallback logo

    Demis A. Kia

  • User avatar fallback logo

    Nicholas W Wood

  • John Hardy, PhD

    Lead PI (Core Leadership): Team Hardy, 

    University College London

  • Claudia Manzoni, PhD

    Key Personnel: Team Hardy, 

    University College London

  • Mina Ryten

    Co-PI (Core Leadership): Team Hardy,  Team Wood, 

    University College London

  • User avatar fallback logo

    Benjamin O’Callaghan, PhD

    Key Personnel: Team Hardy, 

    University College London

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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson’s disease at 16q11.2 and MAPT H1 loci

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L1-silenced iPSC line (HS1_L1HS-CRISPRi_g2 )

Human iPSCs were modified with CRISPRi to target LINE-1 retrotransposons, creating stable cell lines with different genetic backgrounds and guide RNAs. These resources are detailed in Adami et al. (DOI: 10.1016/j.xgen.2025.100979).

View Lab Material
View More Outputs
Aligning Science Across Parkinson's
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