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Article

In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.

International journal of molecular sciences - 18 Oct 2021

Hinz Benjamin E, Walker Sydney G, Xiong Austin, Gogal Rose A, Schnieders Michael J, Wallrath Lori L

Abstract excerpt

Mutations in the LMNA gene cause diseases called laminopathies. LMNA encodes lamins A and C, intermediate filaments with multiple roles at the nuclear envelope. LMNA mutations are frequently single base changes that cause diverse disease phenotypes affecting muscles, nerves, and fat. Disease-associated amino acid substitutions were mapped in silico onto three-dimensional structures of lamin A/C, revealing no...

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Identifiers

PMID: 34681887
DOI: 10.3390/ijms222011226
PMCID: PMC8536974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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