Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study-Reference-Cited by-同舟云学术

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Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1 interaction, with implication in spinal muscular atrophy: A molecular dynamics study

Published:2024-08 Issue: Volume:275 Page:133663
ISSN:0141-8130
Container-title:International Journal of Biological Macromolecules
language:en
Short-container-title:International Journal of Biological Macromolecules

Author:

Polverini Eugenia,Squeri Pietro,Gherardi Valeria

Funder

Università degli Studi di Parma

Publisher

Elsevier BV

Reference49 articles.

1. The genetic component in child mortality;Roberts;Arch. Dis. Child.,1970

2. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

3. Spinal muscular atrophy;Lunn;Lancet,2008

4. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1;Cartegni;Nat. Genet.,2002

5. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN;Lorson;Hum. Mol. Genet.,2000

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