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Prion-Like Domain Dysfunction in SMN1 Initiates Aberrant hnRNP Assembly, Multiple Protein Aggregation and Causing Spinal Muscular Atrophy

2023-10-17

Abstract excerpt

Many proteins linked to neurodegenerative diseases, such as tau, TDP-43, and alpha-synuclein, contain specialized segments known as prion-like low-complexity (LC) domains. Although inherited mutations in these proteins often occur within these domains, their exact role in neuropathology remains unclear. Spinal muscular atrophy (SMA), caused by loss of SMN proteins, is an autosomal recessive disease involving motor...

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Literature Corpus work
3793cf22-9e83-5a8d-8384-568ae4db3958
DOI
10.21203/rs.3.rs-3341542/v1
Open publication

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Prion-Like Domain Dysfunction in SMN1 Initiates Aberrant hnRNP Assembly, Multiple Protein Aggregation and Causing Spinal Muscular AtrophyDOI 10.21203/rs.3.rs-3341542/v1
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