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H. Hu et al.
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Sue Richards et al.
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Kristin D. Kernohan et al.
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Ginevra Zanni et al.
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Defects in tRNA Anticodon Loop 2′-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1
Michael P. Guy et al.
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Jose L. Llacer et al.
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Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
Matthis Synofzik et al.
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The best approach: Homogenization or manual permeabilization of human skeletal muscle fibers for respirometry?
Steen Larsen et al.
ANALYTICAL BIOCHEMISTRY (2014)
The Scanning Mechanism of Eukaryotic Translation Initiation
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Structural Changes Enable Start Codon Recognition by the Eukaryotic Translation Initiation Complex
Tanweer Hussain et al.
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Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome
F. Ezgu et al.
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Susan S. Brooks et al.
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Whole-exome sequence analysis of ataxia telangiectasia-like phenotype
Setsuko Hasegawa et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder
Stavit A. Shalev et al.
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Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
Miguel Lopez de Heredia et al.
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ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death
Jaeseok Han et al.
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Analysis Tool Web Services from the EMBL-EBI
Hamish McWilliam et al.
NUCLEIC ACIDS RESEARCH (2013)
Selection of autophagy or apoptosis in cells exposed to ER-stress depends on ATF4 expression pattern with or without CHOP expression
Hiroki Matsumoto et al.
BIOLOGY OPEN (2013)
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
Muzammil Ahmad Khan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in NSUN2 Cause Autosomal-Recessive Intellectual Disability
Lia Abbasi-Moheb et al.
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A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
Ghada M. H. Abdel-Salam et al.
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Anne-Katrin Emde et al.
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Guntram Borck et al.
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New Insights into Translational Regulation in the Endoplasmic Reticulum Unfolded Protein Response
Graham D. Pavitt et al.
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Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
Cathryn J. Poulton et al.
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Mutation and Expression Analyses of the Ribosomal Protein Gene RPL10 in an Extended German Sample of Patients With Autism Spectrum Disorder
A. Chiocchetti et al.
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Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
Ira Tabas et al.
NATURE CELL BIOLOGY (2011)
Molecular Mechanism of Scanning and Start Codon Selection in Eukaryotes
Alan G. Hinnebusch
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Peter Walter et al.
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The endoplasmic reticulum stress response in the pancreatic beta-cell
A. Volchuk et al.
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The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in beta-cells
R. J. Kaufman et al.
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Wolcott-Rallison syndrome
Cecile Julier et al.
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Generating linkage mapping files from Affymetrix SNP chip data
M. Bahlo et al.
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Pierre Labauge et al.
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Oscar Rubio-Cabezas et al.
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
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M. Helen Rajpar et al.
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Nan Su et al.
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Translation Initiation Factor 2γ Mutant Alters Start Codon Selection Independent of Met-tRNA Binding
Pankaj V. Alone et al.
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Signal integration in the endoplasmic reticulum unfolded protein response
David Ron et al.
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Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function
Kwok Yeung Tsang et al.
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PERK EIF2AK3 control of pancreatic β cell differentiation and proliferation is required for postnatal glucose homeostasis
Wei Zhang et al.
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Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism
S. M. Klauck et al.
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Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
J Senderek et al.
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WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic β-cells
SG Fonseca et al.
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Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
L Kantor et al.
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The unfolded protein response in vanishing white matter disease
JP van der Voorn et al.
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Fright is a provoking factor in vanishing white matter disease
G Vermeulen et al.
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AG Hinnebusch
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X-ray structure of translation initiation factor eIF2γ -: Implications for tRNA and eIF2α binding
A Roll-Mecak et al.
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Reinitiation involving upstream ORFs regulates ATF4 mRNA translation in mammalian cells
KM Vattem et al.
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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine- binding protein cause nonsyndromic X-linked mental retardation
K Freude et al.
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Translation reinitiation at alternative open reading frames regulates gene expression in an integrated stress response
PD Lu et al.
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An integrated stress response regulates amino acid metabolism and resistance to oxidative stress
HP Harding et al.
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E Leshinsky-Silver et al.
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TE Dever
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HP Harding et al.
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HP Harding et al.
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