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Autophagy. 2021 Nov;17(11):3690-3706. doi: 10.1080/15548627.2021.1891848. Epub 2021 Mar 09.

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.

Autophagy

Mukhran Khundadze, Federico Ribaudo, Adeela Hussain, Henry Stahlberg, Nahal Brocke-Ahmadinejad, Patricia Franzka, Rita-Eva Varga, Milena Zarkovic, Thanakorn Pungsrinont, Miriam Kokal, Ian G Ganley, Christian Beetz, Marc Sylvester, Christian A Hübner

Affiliations

  1. Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany.
  2. Core Facility Mass Spectrometry, Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany.
  3. MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, Scotland.
  4. Institute of Clinical Chemistry, University Hospital Jena, Friedrich-Schiller-University Jena, Germany; Current Affiliation: Centogene GmbH, Rostock, Germany.

PMID: 33618608 PMCID: PMC8632344 DOI: 10.1080/15548627.2021.1891848

Abstract

Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinical course and together are the most prevalent autosomal recessive HSP entity. The respective proteins play a role for macroautophagy/autophagy and autophagic lysosome reformation (ALR). Here, we report that

Keywords: Autophagy; PI4K2A; lysosome; neurodegeneration; spg11; spg15

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