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Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.

Cell death & disease - 10 May 2021

Tripathi Priyanka, Guo Haihong, Dreser Alice, Yamoah Alfred, Sechi Antonio, Jesse Christopher Marvin, Katona Istvan, Doukas Panagiotis, Nikolin Stefan, Ernst Sabrina, Aronica Eleonora, Glaß Hannes, Hermann Andreas, Steinbusch Harry, Feller Alfred C, Bergmann Markus, Jaarsma Dick, Weis Joachim, Goswami Anand

Abstract excerpt

Mutations in RNA binding proteins (RBPs) and in genes regulating autophagy are frequent causes of familial amyotrophic lateral sclerosis (fALS). The P56S mutation in vesicle-associated membrane protein-associated protein B (VAPB) leads to fALS (ALS8) and spinal muscular atrophy (SMA). While VAPB is primarily involved in the unfolded protein response (UPR), vesicular trafficking and in initial steps of the...

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Identifiers

PMID: 33972508
DOI: 10.1038/s41419-021-03710-y
PMCID: PMC8110809

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