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Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.

Cell death & disease - 3 Aug 2024

Lehmann Johannes, Aly Amr, Steffke Christina, Fabbio Luca, Mayer Valentin, Dikwella Natalie, Halablab Kareen, Roselli Francesco, Seiffert Simone, Boeckers Tobias M, Brenner David, Kabashi Edor, Mulaw Medhanie, Ho Ritchie, Catanese Alberto

Abstract excerpt

Spinal motor neurons (MNs) represent a highly vulnerable cellular population, which is affected in fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we show that the heterozygous loss of SYT13 is sufficient to trigger a neurodegenerative phenotype resembling those observed in ALS and SMA. SYT13+/- hiPSC-derived MNs displayed a...

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Identifiers

PMID: 39097602
DOI: 10.1038/s41419-024-06957-3
PMCID: PMC11297993

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