Selenoprotein N: Its Role in Disease

[1]  J. Lainé,et al.  Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy , 2011, PloS one.

[2]  G. Reiser,et al.  Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection. , 2011, Antioxidants & redox signaling.

[3]  A. Krol,et al.  Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. , 2011, Human Molecular Genetics.

[4]  N. Bresolin,et al.  New molecular findings in congenital myopathies due to selenoprotein N gene mutations , 2011, Journal of the Neurological Sciences.

[5]  S. Delp,et al.  Short Telomeres and Stem Cell Exhaustion Model Duchenne Muscular Dystrophy in mdx/mTR Mice , 2010, Cell.

[6]  F. Muntoni,et al.  Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. , 2010, The Journal of clinical investigation.

[7]  C. Giulivi,et al.  Basal Bioenergetic Abnormalities in Skeletal Muscle from Ryanodine Receptor Malignant Hyperthermia-susceptible R163C Knock-in Mice* , 2010, The Journal of Biological Chemistry.

[8]  K. Bushby,et al.  Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion , 2010, Human mutation.

[9]  T. Peng,et al.  Oxidative stress caused by mitochondrial calcium overload , 2010, Annals of the New York Academy of Sciences.

[10]  Elias S. J. Arnér.  Selenoproteins-What unique properties can arise with selenocysteine in place of cysteine? , 2010, Experimental cell research.

[11]  A. Ferreiro,et al.  Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. , 2010, Antioxidants & redox signaling.

[12]  H. Forman,et al.  Signaling functions of reactive oxygen species. , 2010, Biochemistry.

[13]  J. Seidman,et al.  Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods , 2009, Proceedings of the National Academy of Sciences.

[14]  A. Holmgren,et al.  Metabolism of selenium compounds catalyzed by the mammalian selenoprotein thioredoxin reductase. , 2009, Biochimica et biophysica acta.

[15]  G. Hajnóczky,et al.  SR/ER-mitochondrial local communication: calcium and ROS. , 2009, Biochimica et biophysica acta.

[16]  A. Krol,et al.  Selenoprotein function and muscle disease. , 2009, Biochimica et biophysica acta.

[17]  V. Gladyshev,et al.  Eukaryotic selenoproteins and selenoproteomes. , 2009, Biochimica et biophysica acta.

[18]  H. Steinbrenner,et al.  Protection against reactive oxygen species by selenoproteins. , 2009, Biochimica et biophysica acta.

[19]  P. Pinton,et al.  Structural and functional link between the mitochondrial network and the endoplasmic reticulum. , 2009, The international journal of biochemistry & cell biology.

[20]  R. Guigó,et al.  Low exchangeability of selenocysteine, the 21st amino acid, in vertebrate proteins. , 2009, Molecular biology and evolution.

[21]  A. Krol,et al.  Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors , 2009, BMC Developmental Biology.

[22]  F. Muntoni,et al.  Oxidative stress in SEPN1‐related myopathy: From pathophysiology to treatment , 2009, Annals of neurology.

[23]  Mark W. Moyle,et al.  A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1‐related myopathy , 2009, Human mutation.

[24]  Y. Lindqvist,et al.  Crystal Structure and Catalysis of the Selenoprotein Thioredoxin Reductase 1* , 2009, Journal of Biological Chemistry.

[25]  A. E. Rossi,et al.  Mitochondria are linked to calcium stores in striated muscle by developmentally regulated tethering structures. , 2008, Molecular biology of the cell.

[26]  T. Crawford,et al.  Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle , 2008, Proceedings of the National Academy of Sciences.

[27]  Charles E. Chapple,et al.  Relaxation of Selective Constraints Causes Independent Selenoprotein Extinction in Insect Genomes , 2008, PloS one.

[28]  C. Bönnemann,et al.  The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. , 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[29]  Mark W. Moyle,et al.  A recoding element that stimulates decoding of UGA codons by Sec tRNA[Ser]Sec. , 2007, RNA.

[30]  Kum Kum Khanna,et al.  From selenium to selenoproteins: synthesis, identity, and their role in human health. , 2007, Antioxidants & redox signaling.

[31]  K. Parain,et al.  Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies , 2007, Journal of neuropathology and experimental neurology.

[32]  S. Hamilton,et al.  Identification of Cysteines Involved in S-Nitrosylation, S-Glutathionylation, and Oxidation to Disulfides in Ryanodine Receptor Type 1* , 2006, Journal of Biological Chemistry.

[33]  N. Petit,et al.  A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy , 2006, EMBO reports.

[34]  C. Davis,et al.  Both selenoproteins and low molecular weight selenocompounds reduce colon cancer risk in mice with genetically impaired selenoprotein expression , 2006, The Journal of nutrition.

[35]  N. Clarke,et al.  SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance , 2006, Annals of neurology.

[36]  A. Krol,et al.  Cellular and Molecular Life Sciences Review Understanding the importance of selenium and selenoproteins in muscle function , 2005 .

[37]  M. T. Howard,et al.  Recoding elements located adjacent to a subset of eukaryal selenocysteine‐specifying UGA codons , 2005, The EMBO journal.

[38]  R. DePinho,et al.  Essential role of limiting telomeres in the pathogenesis of Werner syndrome , 2004, Nature Genetics.

[39]  F. Hanefeld,et al.  Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene , 2004, Annals of neurology.

[40]  N. Laing,et al.  Central core disease: clinical, pathological, and genetic features , 2003, Archives of disease in childhood.

[41]  G. Kryukov,et al.  Spatial and temporal expression patterns of selenoprotein genes during embryogenesis in zebrafish. , 2003, Gene expression patterns : GEP.

[42]  R. Guigó,et al.  Characterization of Mammalian Selenoproteomes , 2003, Science.

[43]  N. Petit,et al.  Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. , 2003, Human molecular genetics.

[44]  Robert M. Bachoo,et al.  Telomere dysfunction and Atm deficiency compromises organ homeostasis and accelerates ageing , 2003, Nature.

[45]  F. Muntoni,et al.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. , 2002, American journal of human genetics.

[46]  A. Lemainque,et al.  A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene , 2002, Annals of neurology.

[47]  F. Muntoni,et al.  Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome , 2001, Nature Genetics.

[48]  Whanger Pd.  Selenoprotein W: a review. , 2000 .

[49]  T. Stangler,et al.  Skeletal Muscle Ryanodine Receptor Is a Redox Sensor with a Well Defined Redox Potential That Is Sensitive to Channel Modulators* , 2000, The Journal of Biological Chemistry.

[50]  D Gautheret,et al.  Novel Selenoproteins Identified in Silico andin Vivo by Using a Conserved RNA Structural Motif* , 1999, The Journal of Biological Chemistry.

[51]  B. Thisse,et al.  Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo. , 2007, Experimental Cell Research.

[52]  V. Pietrini,et al.  Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene , 2004, Journal of Neurology.

[53]  P. Brookes,et al.  Role of calcium and superoxide dismutase in sensitizing mitochondria to peroxynitrite-induced permeability transition. , 2004, American journal of physiology. Heart and circulatory physiology.