Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation

Functional characterization of human brown adipose tissue metabolism

(2020) Marie Anne Richard et al.   BIOCHEMICAL JOURNAL

Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)

(2020) Alexander J. Knights et al.   Nature Communications

Body temperature control in rats by muscle tone during rest or sleep

(2019) Terje Lømo et al.   Acta Physiologica

A fast, reliable and sample-sparing method to identify fibre types of single muscle fibres

(2019) Danny Christiansen et al.   Scientific Reports

Recent advances in the detection of brown adipose tissue in adult humans: a review

(2018) Frank J. Ong et al.   CLINICAL SCIENCE

ACTN3, Morbidity, and Healthy Aging

(2018) Craig Pickering et al.   Frontiers in Genetics

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

(2018) Juan Del Coso et al.   EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY

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

(2018) Peter J. Houweling et al.   HUMAN MUTATION

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

(2017) P J Houweling et al.   INTERNATIONAL JOURNAL OF OBESITY

Mapping of human brown adipose tissue in lean and obese young men

(2017) Brooks P. Leitner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Muscle Non-shivering Thermogenesis and Its Role in the Evolution of Endothermy

(2017) Julia Nowack et al.   Frontiers in Physiology

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3 , the ‘gene for speed’

(2016) Fiona X.Z. Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Increased Reliance on Muscle-based Thermogenesis upon Acute Minimization of Brown Adipose Tissue Function

(2016) Naresh C. Bal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence for ACTN3 as a Speed Gene in Isolated Human Muscle Fibers

(2016) Siacia Broos et al.   PLoS One

Brief Rewarming Blunts Hypothermia-Induced Alterations in Sensation, Motor Drive and Cognition

(2016) Marius Brazaitis et al.   Frontiers in Physiology

Ca2+leakage out of the sarcoplasmic reticulum is increased in type I skeletal muscle fibres in aged humans

(2015) C. R. Lamboley et al.   JOURNAL OF PHYSIOLOGY-LONDON

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Stewart I. Head et al.   PLoS Genetics

Differing Evolutionary Histories of the ACTN3*R577X Polymorphism among the Major Human Geographic Groups

(2015) Carlos Eduardo G. Amorim et al.   PLoS One

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

The role of skeletal-muscle-based thermogenic mechanisms in vertebrate endothermy

(2014) Leslie A. Rowland et al.   BIOLOGICAL REVIEWS

Intermittent whole-body cold immersion induces similar thermal stress but different motor and cognitive responses between males and females

(2014) Rima Solianik et al.   CRYOBIOLOGY

ACTN3 genotype and modulation of skeletal muscle response to exercise in human subjects

(2014) Barbara Norman et al.   JOURNAL OF APPLIED PHYSIOLOGY

Sarcoplasmic reticulum Ca2+uptake and leak properties, and SERCA isoform expression, in type I and type II fibres of human skeletal muscle

(2014) C. R. Lamboley et al.   JOURNAL OF PHYSIOLOGY-LONDON

Contributions of white and brown adipose tissues and skeletal muscles to acute cold-induced metabolic responses in healthy men

(2014) Denis P. Blondin et al.   JOURNAL OF PHYSIOLOGY-LONDON

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Two Strategies for Response to 14°C Cold-Water Immersion: Is there a Difference in the Response of Motor, Cognitive, Immune and Stress Markers?

(2014) Marius Brazaitis et al.   PLoS One

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Endogenous and maximal sarcoplasmic reticulum calcium content and calsequestrin expression in type I and type II human skeletal muscle fibres

(2013) C. R. Lamboley et al.   JOURNAL OF PHYSIOLOGY-LONDON

ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient

(2013) Scott M. Friedlander et al.   PLoS One

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

(2012) Tomas Venckunas et al.   Applied Physiology Nutrition and Metabolism

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters

(2011) Ildus I. Ahmetov et al.   EXPERIMENTAL PHYSIOLOGY

Fiber Types in Mammalian Skeletal Muscles

(2011) Stefano Schiaffino et al.   PHYSIOLOGICAL REVIEWS

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

(2010) Kate G.R. Quinlan et al.   HUMAN MOLECULAR GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Protocol for high-resolution separation of rodent myosin heavy chain isoforms in a mini-gel electrophoresis system

(2008) Wataru Mizunoya et al.   ANALYTICAL BIOCHEMISTRY

Nonshivering thermogenesis protects against defective calcium handling in muscle

(2008) Jan Aydin et al.   FASEB JOURNAL