Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models

(2014) Amber L. Mueller et al.   MUSCLE & NERVE

Steroid Receptor RNA Activator (SRA) Modification by the Human Pseudouridine Synthase 1 (hPus1p): RNA Binding, Activity, and Atomic Model

(2014) Tiphaine Huet et al.   PLoS One

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

(2013) Rojeen Shahni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In Human Pseudouridine Synthase 1 (hPus1), a C-Terminal Helical Insert Blocks tRNA from Binding in the Same Orientation as in the Pus1 Bacterial Homologue TruA, Consistent with Their Different Target Selectivities

(2013) Nadine Czudnochowski et al.   JOURNAL OF MOLECULAR BIOLOGY

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

(2013) Lisa G Riley et al.   Orphanet Journal of Rare Diseases

Thermodynamic contribution and nearest-neighbor parameters of pseudouridine-adenosine base pairs in oligoribonucleotides

(2013) G. A. Hudson et al.   RNA

A Small RNA Derived from RNA Coactivator SRA Blocks Steroid Receptor Signaling via Inhibition of Pus1p-Mediated Pseudouridylation of SRA: Evidence of a Novel RNA Binding Domain in the N-Terminus of Steroid Receptors

(2012) Sajal K. Ghosh et al.   BIOCHEMISTRY

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

(2012) Florin Sasarman et al.   HUMAN MUTATION

Skeletal muscle mitochondrial density, gene expression, and enzyme activities in human heart failure: minimal effects of the disease and resistance training

(2012) Michael J. Toth et al.   JOURNAL OF APPLIED PHYSIOLOGY

IL-6 regulation on skeletal muscle mitochondrial remodeling during cancer cachexia in the ApcMin/+ mouse

(2012) James P White et al.   Skeletal Muscle

Effects of endurance training on apoptotic susceptibility in striated muscle

(2011) Anna Vainshtein et al.   JOURNAL OF APPLIED PHYSIOLOGY

Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements

(2011) B. S. Sibert et al.   NUCLEIC ACIDS RESEARCH

The effect of exercise on IL-6-induced cachexia in theApcMin/+mouse

(2011) Melissa J. Puppa et al.   Journal of Cachexia Sarcopenia and Muscle

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muscle oxidative capacity during IL-6-dependent cancer cachexia

(2010) James P. White et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

The structure of the human tRNALys3 anticodon bound to the HIV genome is stabilized by modified nucleosides and adjacent mismatch base pairs

(2009) Yann Bilbille et al.   NUCLEIC ACIDS RESEARCH

tRNAdb 2009: compilation of tRNA sequences and tRNA genes

(2008) F. Juhling et al.   NUCLEIC ACIDS RESEARCH

Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1

(2008) B. S. Sibert et al.   RNA