A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
Karla P. Figueroa, Caspar Groß, Elena Buena‐Atienza, Sharan Paul, Mandi Gandelman, Naseebullah Kakar, Marc Sturm, Nicolas Casadei, Jakob Admard, Joohyun Park, Christine Zühlke, Yorck Hellenbroich, Jelena Pozojevic, Saranya Balachandran, Kristian Händler, Simone Zittel, Dagmar Timmann, Friedrich Erdlenbruch, Laura Herrmann, Thomas Feindt, Martin Zenker, Thomas Klopstock, Claudia Dufke, Daniel R. Scoles, Arnulf H. Koeppen, Malte Spielmann, Olaf Rieß, Stephan Ossowski, Tobias B. Haack, Stefan M. Pulst
Topics & Concepts
Spinocerebellar ataxiaBiologyAutophagyType (biology)Encoding (memory)GeneticsAtaxiaTrinucleotide repeat expansionComputational biologyGeneNeuroscienceEcologyApoptosisAlleleGenetic Neurodegenerative DiseasesGenetics and Neurodevelopmental DisordersDNA Repair Mechanisms