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

  • User avatar fallback logo

    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

Impaired mitophagy is linked to familial PD. New study identifies KAT8 and KANSL1 as regulators of PINK1-dependent mitophagy, suggesting their role in idiopathic Parkinson’s. KANSL1 may be crucial in the disease, offering potential drug targets.

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Gene expression profile at single cell levels of the cells from the controls and tau P251L Drosophila brain

Tau protein's role in Alzheimer's disease was studied by introducing a human tau mutation into Drosophila using CRISPR. Single-cell RNA sequencing helped identify genes and pathways involved in tauopathy.

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scAlleleExpression: R package for downstream analysis of allele specific expression single cell data

An R package for investigating Cell Type specific regulatory genetics using single cell or nuclei allele specific expression data. It loads ASE pipeline output, performs ASE analysis, and works with various ASE pipelines.

View Code
View More Outputs
Aligning Science Across Parkinson's
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