Jane T. Seto
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View article: <i>ACTN3</i> genotype influences androgen response in developing murine skeletal muscle
<i>ACTN3</i> genotype influences androgen response in developing murine skeletal muscle Open
Androgens act through androgen receptor (AR) to maintain muscle mass. Evidence suggests that this pathway is influenced by “the gene for speed,” ACTN3 (α-actinin-3). Given that one in five people lack α-actinin-3, it is possible that they …
View article: alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.
alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling. Open
A nonsense polymorphism in the ACTN3 gene (R577X, rs1815739) results in the loss of the fast skeletal muscle fiber protein α-actinin-3 in an estimated 1.5 billion humans worldwide. Homozygosity for this common polymorphism (ACTN3 577XX) do…
View article: Modern Insights into Muscle Glycogen Phosphorylase Activity
Modern Insights into Muscle Glycogen Phosphorylase Activity Open
Recent identification of new human muscle glycogen phosphorylation sites has renewed interest in understanding human variations in the regulation of glycogen metabolism and glucose homeostasis. This paper presents a detailed method for the…
View article: Efficacy and muscle safety assessment of fukutin-related protein gene therapy
Efficacy and muscle safety assessment of fukutin-related protein gene therapy Open
Limb-girdle muscular dystrophy type R9 (LGMDR9) is a muscle-wasting disease that begins in the hip and shoulder regions of the body. This disease is caused by mutations in fukutin-related protein (FKRP), a glycosyltransferase critical for …
View article: An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq Open
Background The effects of Anabolic Androgenic Steroids (AAS) are largely illustrated through Androgen Receptor induced gene transcription, yet RNA-Seq has yet to be conducted on human whole blood and skeletal muscle. Investigating the tran…
View article: The MMAAS Project: An Observational Human Study Investigating the Effect of Anabolic Androgenic Steroid Use on Gene Expression and the Molecular Mechanism of Muscle Memory
The MMAAS Project: An Observational Human Study Investigating the Effect of Anabolic Androgenic Steroid Use on Gene Expression and the Molecular Mechanism of Muscle Memory Open
Objective: It remains unknown whether myonuclei remain elevated post anabolic-androgenic steroid (AAS) usage in humans. Limited data exist on AAS-induced changes in gene expression. Design: Cross-sectional/longitudinal. Setting: University…
View article: <i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasone
<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasone Open
α-Actinin-3 deficiency alters muscle mass regulation and protects against dexamethasone-induced muscle wasting.
View article: <i>ACTN3</i>genotype influences skeletal muscle mass regulation and response to dexamethasone
<i>ACTN3</i>genotype influences skeletal muscle mass regulation and response to dexamethasone Open
Homozygosity for the common ACTN3 null polymorphism ( ACTN3 577X) results in α-actinin-3 deficiency in ~20% of humans worldwide and is linked to reduced sprint and power performance in both elite athletes and the general population. α-Acti…
View article: Sport and exercise genomics: the FIMS 2019 consensus statement update
Sport and exercise genomics: the FIMS 2019 consensus statement update Open
Rapid advances in technologies in the field of genomics such as high throughput DNA sequencing, big data processing by machine learning algorithms and gene-editing techniques are expected to make precision medicine and gene-therapy a great…
View article: ACTN3 genotype influences skeletal muscle mass regulation and the response to dexamethasone
ACTN3 genotype influences skeletal muscle mass regulation and the response to dexamethasone Open
Homozygosity for the common ACTN3 null polymorphism (ACTN3 577X) results in α-actinin-3 deficiency in ~20% of humans worldwide and is linked to reduced sprint and power performance in both elite athletes and the general population. α-Actin…
View article: Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype
Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype Open
α-Actinin-3 (ACTN3 R577X, rs.1815739) polymorphism is a genetic variation that shows the most consistent influence on metabolic pathway and muscle phenotype. XX genotype is associated with higher metabolic efficiency of skeletal muscle; ho…
View article: Cullin-3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy
Cullin-3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy Open
Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy and presence of nemaline bodies within myofibers. However, the understanding of underlying pathomechanisms is lacking. Recently, mutat…
View article: Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice
Androgen Action via the Androgen Receptor in Neurons Within the Brain Positively Regulates Muscle Mass in Male Mice Open
Although it is well established that exogenous androgens have anabolic effects on skeletal muscle mass in humans and mice, data from muscle-specific androgen receptor (AR) knockout (ARKO) mice indicate that myocytic expression of the AR is…
View article: Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion
Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion Open
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼ 18% of the global population. There is no associated disease phenotype, but α-actinin-3 deficiency is detrimental to sprint and power performance in both elite …
View article: Progress and prospects of gene therapy clinical trials for the muscular dystrophies
Progress and prospects of gene therapy clinical trials for the muscular dystrophies Open
Clinical trials represent a critical avenue for new treatment development, where early phases (I, I/II) are designed to test safety and effectiveness of new therapeutics or diagnostic indicators. A number of recent advances have spurred re…