A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding
Authors
Keywords
mRNA Stability, Ketogenic Diet, Reporter Gene Expression, Mutation Construct, SCN1A Gene
Journal
HUMAN GENETICS
Volume 133, Issue 6, Pages 801-811
Publisher
Springer Nature
Online
2014-01-24
DOI
10.1007/s00439-014-1422-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Role of genetic testing in the management of patients with inherited porphyria and their families
- (2013) S D Whatley et al. ANNALS OF CLINICAL BIOCHEMISTRY
- Subcellular dynamics of multifunctional protein regulation: Mechanisms of GAPDH intracellular translocation
- (2012) Michael A. Sirover JOURNAL OF CELLULAR BIOCHEMISTRY
- Binding of glyceraldehyde-3-phosphate dehydrogenase to the cis-acting element of structure-anchored repression in ccn2 mRNA
- (2011) Seiji Kondo et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- GAPDH: A common enzyme with uncommon functions
- (2011) Craig Nicholls et al. CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY
- Protective effect of the ketogenic diet in Scn1a mutant mice
- (2011) Stacey B. B. Dutton et al. EPILEPSIA
- Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: A prospective pilot study
- (2011) Rima Nabbout et al. EPILEPSIA
- Promoter Analysis of Mouse Scn3a Gene and Regulation of the Promoter Activity by GC Box and CpG Methylation
- (2011) Guang-Fei Deng et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- Functional SNP in the microRNA-367 binding site in the 3'UTR of the calcium channel ryanodine receptor gene 3 (RYR3) affects breast cancer risk and calcification
- (2011) L. Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The diverse functions of GAPDH: Views from different subcellular compartments
- (2010) Carlos Tristan et al. CELLULAR SIGNALLING
- Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1
- (2010) Wei-Ping Liao et al. EPILEPSIA
- Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
- (2010) Tojo Nakayama et al. HUMAN MUTATION
- Translational Regulation of Gene Expression during Conditions of Cell Stress
- (2010) Keith A. Spriggs et al. MOLECULAR CELL
- Understanding mechanisms underlying human gene expression variation with RNA sequencing
- (2010) Joseph K. Pickrell et al. NATURE
- Role of 5′- and 3′-untranslated regions of mRNAs in human diseases
- (2009) Sangeeta Chatterjee et al. BIOLOGY OF THE CELL
- Posttranscriptional regulation of angiotensin II type 1 receptor expression by glyceraldehyde 3-phosphate dehydrogenase
- (2009) M. Backlund et al. NUCLEIC ACIDS RESEARCH
- To localize or not to localize: mRNA fate is in 3′UTR ends
- (2009) Catia Andreassi et al. TRENDS IN CELL BIOLOGY
- Messenger RNA regulation: to translate or to degrade
- (2008) Ann-Bin Shyu et al. EMBO JOURNAL
- Lability of GABAAreceptor function in human partial epilepsy: Possible relationship to hypometabolism
- (2008) René Pumain et al. EPILEPSIA
- Genetic influences on ketogenic diet efficacy
- (2008) Stacey B. B. Dutton et al. EPILEPSIA
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
- Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons
- (2008) Yue-Sheng Long et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Glyceraldehyde-3-Phosphate Dehydrogenase Regulates Endothelin-1 Expression by a Novel, Redox-Sensitive Mechanism Involving mRNA Stability
- (2008) F. Rodriguez-Pascual et al. MOLECULAR AND CELLULAR BIOLOGY
- The Multifunctional Protein Glyceraldehyde-3-Phosphate Dehydrogenase Is Both Regulated and Controls Colony-Stimulating Factor-1 Messenger RNA Stability in Ovarian Cancer
- (2008) Y. Zhou et al. MOLECULAR CANCER RESEARCH
- Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
- (2008) Andre Franke et al. NATURE GENETICS
- Analyzing real-time PCR data by the comparative CT method
- (2008) Thomas D Schmittgen et al. Nature Protocols
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More