Role of SFRS13A in low‐density lipoprotein receptor splicing

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Human Mutation

• Publication date

  2010-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/humu.21244PMID 20232416PMCID PMC3184548
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Dietary composition modulates brain mass and solubilizable Aβ levels in a mouse model of aggressive Alzheimer's amyloid pathology

  2009cited by this paper
• Leading Edge Review RNA and Disease

  2009cited by this paper
• Overexpression of low-density lipoprotein receptor in the brain markedly inhibits amyloid deposition and increases extracellular A beta clearance.

  2009cited by this paper
• Alternative splicing and disease.

  2009cited by this paper
• Heterogeneous Nuclear Ribonucleoprotein G Regulates Splice Site Selection by Binding to CC(A/C)-rich Regions in Pre-mRNA*

  2009cited by this paper
• Nuclear functions of heterogeneous nuclear ribonucleoproteins A/B

  2008cited by this paper
• Tau exon 10 alternative splicing and tauopathies

  2008cited by this paper
• Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.

  2008cited by this paper
• SR proteins and related factors in alternative splicing.

  2007cited by this paper
• Discovery of tissue-specific exons using comprehensive human exon microarrays

  2007cited by this paper
• Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease.

  2007cited by this paper
• Sex-dependent up-regulation of two splicing factors, Psf and Srp20, during hippocampal memory formation.

  2007cited by this paper
• A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.

  2007influential reference
• Lack of LDL receptor aggravates learning deficits and amyloid deposits in Alzheimer transgenic mice.

  2006cited by this paper
• A Combinatorial Code for Splicing Silencing: UAGG and GGGG Motifs

  2005cited by this paper
• The Low Density Lipoprotein Receptor Regulates the Level of Central Nervous System Human and Murine Apolipoprotein E but Does Not Modify Amyloid Plaque Pathology in PDAPP Mice*

  2005cited by this paper
• Faculty Opinions recommendation of Systematic identification and analysis of exonic splicing silencers.

  2005cited by this paper
• Systematic identification and analysis of exonic splicing silencers.

  2004cited by this paper
• Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22.

  2004cited by this paper
• Genome-Wide Survey of Human Alternative Pre-mRNA Splicing with Exon Junction Microarrays

  2003cited by this paper
• ESEfinder: a web resource to identify exonic splicing enhancers

  2003cited by this paper
• HnRNP G and Tra2 beta: opposite effects on splicing matched by antagonism in RNA binding (vol 12, pg 1337, 2003)

  2003cited by this paper
• HnRNP G and Tra2beta: opposite effects on splicing matched by antagonism in RNA binding.

  2003cited by this paper
• Alternative splicing: multiple control mechanisms and involvement in human disease.

  2002cited by this paper
• Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

  2002cited by this paper
• hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1.

  2002cited by this paper
• Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

  2000cited by this paper
• An evolutionarily conserved germ cell-specific hnRNP is encoded by a retrotransposed gene.

  2000cited by this paper
• hnRNP complexes: composition, structure, and function.

  1999cited by this paper
• Cloning and characterization of two neural‐salient serine/arginine‐rich (NSSR) proteins involved in the regulation of alternative splicing in neurones

  1999cited by this paper
• Regulated expression and RNA processing of transcripts from the Srp20 splicing factor gene during the cell cycle

  1997cited by this paper
• Synergistic interactions between two distinct elements of a regulated splicing enhancer.

  1995cited by this paper
• Identification and characterization of three members of the human SR family of pre‐mRNA splicing factors.

  1995cited by this paper
• A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.

  1993cited by this paper
• Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

  1992cited by this paper
• Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

  1987cited by this paper

• Genetics of PLCG2 expression and splicing relative to Alzheimer’s disease risk

  2025cites this paper
• Genetics of PLCG2 expression and splicing relative to Alzheimer’s disease risk

  2025cites this paper
• Emerging roles of RNA‐binding proteins in fatty liver disease

  2024cites this paper
• SRSF10: an atypical splicing regulator with critical roles in stress response, organ development, and viral replication

  2021cites this paper
• N6-methyladenosine (m6A) modification and its clinical relevance in cognitive dysfunctions

  2021cites this paper
• Identification of SRSF10 as a regulator of SMN2 ISS‐N1

  2020cites this paper
• Integrated identification of key genes and pathways in Alzheimer’s disease via comprehensive bioinformatical analyses

  2019cites this paper
• Alzheimer’s Disease Genetics and ABCA7 Splicing

  2017cites this paper
• Predominant expression of Alzheimer’s disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts

  2016cites this paper
• The RNAissance family: SR proteins as multifaceted regulators of gene expression

  2015cites this paper
• Inflammation and Hyperglycemia Mediate Deaf1 Splicing in the Pancreatic Lymph Nodes via Distinct Pathways During Type 1 Diabetes

  2014cites this paper
• Western diet in ApoE-LDLR double-deficient mouse model of atherosclerosis leads to hepatic steatosis, fibrosis, and tumorigenesis

  2014cites this paper
• Cardiac glycosides correct aberrant splicing of IKBKAP‐encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3

  2013cites this paper
• ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status.

  2013cites this paper
• BACE2 expression increases in human neurodegenerative disease.

  2012cites this paper
• Medulla oblongata transcriptome changes during presymptomatic natural scrapie and their association with prion-related lesions

  2012cites this paper
• Genetics of Clusterin Isoform Expression and Alzheimer's Disease Risk

  2012cites this paper
• FBN1 isoform expression varies in a tissue and development-specific fashion.

  2011cites this paper
• Rheumatoid arthritis-associated polymorphisms are not protective against Alzheimer's disease

  2011cites this paper
• Evaluation of the global association between cholesterol-associated polymorphisms and Alzheimer's disease suggests a role for rs3846662 and HMGCR splicing in disease risk

  2011cites this paper
• Dephosphorylated NSSR1 Is Induced by Androgen in Mouse Epididymis and Phosphorylated NSSR1 Is Increased during Sperm Maturation

  2011cites this paper
• GENOME-WIDE ASSOCIATION STUDIES AT THE INTERFACE OF ALZHEIMER'S DISEASE AND EPIDEMIOLOGICALLY RELATED DISORDERS

  2011cites this paper
• Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.

  2010cites this paper
• Expression and regulation of a low‐density lipoprotein receptor exon 12 splice variant

  2010cites this paper