Article
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.
Proceedings of the National Academy of Sciences of the United States of America - 12 Jan 2021
Rodríguez de Los Santos Miguel, Rivalan Marion, David Friederike S, Stumpf Alexander, Pitsch Julika, Tsortouktzidis Despina, Velasquez Laura Moreno, Voigt Anne, Schilling Karl, Mattei Daniele, Long Melissa, Vogt Guido, Knaus Alexej, Fischer-Zirnsak Björn, Wittler Lars, Timmermann Bernd, Robinson Peter N, Horn Denise, Mundlos Stefan, Kornak Uwe, Becker Albert J, Schmitz Dietmar, Winter York, Krawitz Peter M
Abstract excerpt
Pathogenic germline mutations in PIGV lead to glycosylphosphatidylinositol biosynthesis deficiency (GPIBD). Individuals with pathogenic biallelic mutations in genes of the glycosylphosphatidylinositol (GPI)-anchor pathway exhibit cognitive impairments, motor delay, and often epilepsy. Thus far, the pathophysiology underlying the disease remains unclear, and suitable rodent models that mirror all symptoms observed...
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