Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism

Chemistry and Biology in the Biosynthesis and Action of Thyroid Hormones

(2016) Santanu Mondal et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

(2016) Efterpi Pavlidou et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

(2016) Erik Schoenmakers et al.   JOURNAL OF CLINICAL INVESTIGATION

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

(2016) Kazuhiro Iwama et al.   JOURNAL OF HUMAN GENETICS

Regulation of Selenium Metabolism and Transport

(2015) Raymond F. Burk et al.   Annual Review of Nutrition

Membrane-Bound Selenoproteins

(2015) Jun Liu et al.   ANTIOXIDANTS & REDOX SIGNALING

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

(2015) Eliska Holzerova et al.   BRAIN

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Ablation of the Ferroptosis Inhibitor Glutathione Peroxidase 4 in Neurons Results in Rapid Motor Neuron Degeneration and Paralysis

(2015) Liuji Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

(2015) Anna-Kaisa Anttonen et al.   NEUROLOGY

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Impaired selenoprotein expression in brain triggers striatal neuronal loss leading to co-ordination defects in mice

(2014) Sandra Seeher et al.   BIOCHEMICAL JOURNAL

Cerebellar Hypoplasia in Mice Lacking Selenoprotein Biosynthesis in Neurons

(2014) Eva K. Wirth et al.   BIOLOGICAL TRACE ELEMENT RESEARCH

Sepp1UF forms are N-terminal selenoprotein P truncations that have peroxidase activity when coupled with thioredoxin reductase-1

(2014) Suguru Kurokawa et al.   FREE RADICAL BIOLOGY AND MEDICINE

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

(2014) Periklis Makrythanasis et al.   HUMAN MUTATION

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

(2014) Rathi Prasad et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

(2014) Amanda C Smith et al.   JOURNAL OF MEDICAL GENETICS

Inactivation of the ferroptosis regulator Gpx4 triggers acute renal failure in mice

(2014) Jose Pedro Friedmann Angeli et al.   NATURE CELL BIOLOGY

Keshan Disease, Selenium Deficiency, and the Selenoproteome

(2014) Joseph Loscalzo   NEW ENGLAND JOURNAL OF MEDICINE

Selenoproteins: Molecular Pathways and Physiological Roles

(2014) Vyacheslav M. Labunskyy et al.   PHYSIOLOGICAL REVIEWS

Selenium and selenocysteine: roles in cancer, health, and development

(2014) Dolph L. Hatfield et al.   TRENDS IN BIOCHEMICAL SCIENCES

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

(2014) John W. Yarham et al.   PLoS Genetics

Mammalian Trit1 is a tRNA[Ser]Sec-isopentenyl transferase required for full selenoprotein expression

(2013) Noelia Fradejas et al.   BIOCHEMICAL JOURNAL

Contrasting roles of dietary selenium and selenoproteins in chemically induced hepatocarcinogenesis

(2013) M. V. Kasaikina et al.   CARCINOGENESIS

Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature

(2012) Canan Aygun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The syndromes of reduced sensitivity to thyroid hormone

(2012) Alexandra M. Dumitrescu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

(2012) Takashi Hamajima et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Gpx4 ablation in adult mice results in a lethal phenotype accompanied by neuronal loss in brain

(2012) Si-Eun Yoo et al.   FREE RADICAL BIOLOGY AND MEDICINE

Selenoprotein N in skeletal muscle: from diseases to function

(2012) Perrine Castets et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Deletion of selenoprotein P results in impaired function of parvalbumin interneurons and alterations in fear learning and sensorimotor gating

(2012) M.W. Pitts et al.   NEUROSCIENCE

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

(2011) Dirk Sibbing et al.   EUROPEAN HEART JOURNAL

Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

(2011) Mathieu Rederstorff et al.   PLoS One

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of megalin leads to urinary loss of selenoprotein P and selenium deficiency in serum, liver, kidneys and brain

(2010) Jazmin Chiu-Ugalde et al.   BIOCHEMICAL JOURNAL

Selenoprotein-Related Disease in a Young Girl Caused by Nonsense Mutations in theSBP2Gene

(2010) Monalisa Ferreira Azevedo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

(2010) Erik Schoenmakers et al.   JOURNAL OF CLINICAL INVESTIGATION

Type 3 Deiodinase, a Thyroid-Hormone-Inactivating Enzyme, Controls Survival and Maturation of Cone Photoreceptors

(2010) L. Ng et al.   JOURNAL OF NEUROSCIENCE

Development of a serum-free supplement for primary neuron culture reveals the interplay of selenium and vitamin E in neuronal survival

(2010) Stephan Roth et al.   JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

Optimal bone strength and mineralization requires the type 2 iodothyronine deiodinase in osteoblasts

(2010) J. H. D. Bassett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration

(2009) Eva K. Wirth et al.   FASEB JOURNAL

Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X)

(2009) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mouse Models Targeting Selenocysteine tRNA Expression for Elucidating the Role of Selenoproteins in Health and Development

(2009) Bradley Carlson et al.   MOLECULES

The Human SepSecS-tRNASec Complex Reveals the Mechanism of Selenocysteine Formation

(2009) S. Palioura et al.   SCIENCE

Osteo-Chondroprogenitor–Specific Deletion of the Selenocysteine tRNA Gene, Trsp, Leads to Chondronecrosis and Abnormal Skeletal Development: A Putative Model for Kashin-Beck Disease

(2009) Charlene M. Downey et al.   PLoS Genetics

Hepatic selenoprotein P (SePP) expression restores selenium transport and prevents infertility and motor-incoordination inSepp-knockout mice

(2008) Kostja Renko et al.   BIOCHEMICAL JOURNAL

The selenocysteine tRNA STAF-binding region is essential for adequate selenocysteine tRNA status, selenoprotein expression and early age survival of mice

(2008) Bradley A. Carlson et al.   BIOCHEMICAL JOURNAL

Glutathione Peroxidase 4 Senses and Translates Oxidative Stress into 12/15-Lipoxygenase Dependent- and AIF-Mediated Cell Death

(2008) Alexander Seiler et al.   Cell Metabolism

A Protective Role for Type 3 Deiodinase, a Thyroid Hormone-Inactivating Enzyme, in Cochlear Development and Auditory Function

(2008) Lily Ng et al.   ENDOCRINOLOGY

A mutation in theSEPN1selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads toSEPN1-related myopathy

(2008) Baijayanta Maiti et al.   HUMAN MUTATION

Megalin Mediates Selenoprotein P Uptake by Kidney Proximal Tubule Epithelial Cells

(2008) Gary E. Olson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurodegeneration in Mice Resulting From Loss of Functional Selenoprotein P or Its Receptor Apolipoprotein E Receptor 2

(2008) William M. Valentine et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS

The Role of Thioredoxin Reductases in Brain Development

(2008) Jonna Soerensen et al.   PLoS One

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

(2008) M. J. Jurynec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA