Article

Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of <i>Actn3KO</i> mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics

2021-11-10

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> A common polymorphism (R577X) in the ACTN3 gene results in complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle fibres in ~16% of the world’s population. This single gene polymorphism has been subject to strong positive selection pressure during recent human evolution. Previously, using an Actn3KO mouse model, we have shown in fast-twitch muscles, ecc...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 07f5925c-c726-56f7-987b-0bffff07ef21
DOI: 10.1101/2021.11.09.467867

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of <i>Actn3KO</i> mouse fast-twitch muscle fibres without altering their contractile properties or twitch kineticsDOI 10.1101/2021.11.09.467867Read

Absence of the Z-disc Protein α-actinin-3 Impairs the Mechanical Stability of Actn3KO Mouse Fast- twitch Muscle Fibres without Altering their Contractile Properties or Twitch KineticsSemantic proximity Read

An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performanceSemantic proximity Read

Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human EvolutionSemantic proximity Read

Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionSemantic proximity Read

Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics.Semantic proximity Read

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.Semantic proximity Read

Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy.Semantic proximity Read

alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.Semantic proximity Read

Human alpha-actinin-3 genotype association with exercise-induced muscle damage and the repeated-bout effect.Semantic proximity Read

alpha-actinin-3 and performance.Semantic proximity Read

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.Semantic proximity Read

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and diseaseSemantic proximity Read