Article

Likely pathogenic variants of SDC3, KCNA2, KCNK1, KCNK16 and HSF1 are in support of acquired irreversible PIEZO2 channelopathy in ALS onset

2025-01-03

Abstract excerpt

<title>Abstract</title> <p> Amyotrophic lateral sclerosis is a multisystem progressive neurodegenerative disease. A recent theory of ALS proposed that the disease initiating primary damage is an acquired irreversible intrafusal proprioceptive terminal PIEZO2 channelopathy with underlying genetic and environmental risk factors. Underpinning this theory that these intrafusal proprioceptive terminal PIEZO2 ion chan...

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Literature Corpus work: c80918a5-d180-57bb-8331-57fab4ef901b
DOI: 10.21203/rs.3.rs-5662995/v1

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