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Title: Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase

Journal Article · · Scientific Reports
DOI:https://doi.org/10.1038/srep32563· OSTI ID:1322349

Research Organization:
Argonne National Lab. (ANL), Argonne, IL (United States). Advanced Photon Source (APS)
Sponsoring Organization:
NCINIH
OSTI ID:
1322349
Journal Information:
Scientific Reports, Vol. 6, Issue 2016; ISSN 2045-2322
Publisher:
Nature Publishing Group
Country of Publication:
United States
Language:
ENGLISH

References (40)

Selenoproteins journal August 2008
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia journal August 2003
The Synthesis of Methylated, Phosphorylated, and Phosphonated 3′-Aminoacyl-tRNA Sec Mimics journal October 2013
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia journal August 2008
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration journal April 2012
Secisbp2 Is Essential for Embryonic Development and Enhances Selenoprotein Expression journal August 2014
Clearance systems in the brain—implications for Alzheimer disease journal July 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings journal March 2015
Neuronal Aggregates: Formation, Clearance, and Spreading journal February 2015
Early embryonic lethality caused by targeted disruption of the mouse selenocysteine tRNA gene (Trsp) journal May 1997
CRYSOL – a Program to Evaluate X-ray Solution Scattering of Biological Macromolecules from Atomic Coordinates journal December 1995
Determination of the regularization parameter in indirect-transform methods using perceptual criteria journal August 1992
Coot model-building tools for molecular graphics journal November 2004
Cerebellar Hypoplasia in Mice Lacking Selenoprotein Biosynthesis in Neurons journal March 2014
PRIMUS: a Windows PC-based system for small-angle scattering data analysis journal September 2003
New developments in the ATSAS program package for small-angle scattering data analysis journal March 2012
Structural insights into RNA-dependent eukaryal and archaeal selenocysteine formation journal December 2007
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate journal June 2015
The Human SepSecS-tRNASec Complex Reveals the Mechanism of Selenocysteine Formation journal July 2009
ATSAS 2.1 – towards automated and web-supported small-angle scattering data analysis journal April 2007
PHENIX: a comprehensive Python-based system for macromolecular structure solution journal January 2010
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations journal February 2016
The crystal structure of human GlnRS provides basis for the development of neurological disorders journal February 2016
Priority in Selenium Homeostasis Involves Regulation of SepSecS Transcription in the Chicken Brain journal April 2012
Secondary-structure matching (SSM), a new tool for fast protein structure alignment in three dimensions journal November 2004
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency journal May 2016
Automated matching of high- and low-resolution structural models journal February 2001
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients journal May 2012
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function journal April 2014
Synthesis and decoding of selenocysteine and human health journal December 2012
Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia journal October 2007
Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy journal October 2010
Structure and Catalytic Mechanism of Eukaryotic Selenocysteine Synthase journal December 2007
Selenium and Chronic Diseases: A Nutritional Genomics Perspective journal May 2015
The BioCAT undulator beamline 18ID: a facility for biological non-crystalline diffraction and X-ray absorption spectroscopy at the Advanced Photon Source journal August 2004
Structural Asymmetry of the Terminal Catalytic Complex in Selenocysteine Synthesis journal September 2014
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration journal April 2014
[20] Processing of X-ray diffraction data collected in oscillation mode book January 1997
Phaser crystallographic software journal July 2007
MPT64 Protein from Mycobacterium tuberculosis Inhibits Apoptosis of Macrophages through NF-kB-miRNA21-Bcl-2 Pathway journal July 2014

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