Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
出版年份 2013 全文链接
标题
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
作者
关键词
ALS, Autophagy, C9ORF72, FTD, Hexanucleotide repeats, iPSCs, Neurodegeneration, Neurons, p62, RAN translation, RNA foci
出版物
ACTA NEUROPATHOLOGICA
Volume 126, Issue 3, Pages 385-399
出版商
Springer Nature
发表日期
2013-07-08
DOI
10.1007/s00401-013-1149-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
- (2013) Kohji Mori et al. ACTA NEUROPATHOLOGICA
- The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
- (2013) Kaalak Reddy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Enhanced Aggregation of Androgen Receptor in Induced Pluripotent Stem Cell-derived Neurons from Spinal and Bulbar Muscular Atrophy
- (2013) Yoshihiro Nihei et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
- (2013) Peter E.A. Ash et al. NEURON
- Nucleophosmin mutations alter its nucleolar localization by impairing G-quadruplex binding at ribosomal DNA
- (2013) Sara Chiarella et al. NUCLEIC ACIDS RESEARCH
- The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
- (2013) K. Mori et al. SCIENCE
- The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
- (2012) Javier Simón-Sánchez et al. BRAIN
- Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes
- (2012) The HD iPSC Consortium Cell Stem Cell
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
- (2012) Elisa Majounie et al. LANCET NEUROLOGY
- Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
- (2012) Alexej Abyzov et al. NATURE
- RNA-binding protein nucleolin in disease
- (2012) Kotb Abdelmohsen et al. RNA Biology
- C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
- (2012) Pietro Fratta et al. Scientific Reports
- Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects
- (2012) Sandra Almeida et al. Cell Reports
- Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells
- (2012) Tarja A Juopperi et al. Molecular Brain
- p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
- (2011) Safa Al-Sarraj et al. ACTA NEUROPATHOLOGICA
- LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress
- (2011) Ha Nam Nguyen et al. Cell Stem Cell
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
- (2011) Ilse Gijselinck et al. LANCET NEUROLOGY
- Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- (2011) Han-Xiang Deng et al. NATURE
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons
- (2011) Jin-A Lee et al. Molecular Brain
- MicroRNA-9 Coordinates Proliferation and Migration of Human Embryonic Stem Cell-Derived Neural Progenitors
- (2010) Celine Delaloy et al. Cell Stem Cell
- Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability
- (2010) Sherman Ku et al. Cell Stem Cell
- Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
- (2010) A. L. Boxer et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
- (2010) Janel O. Johnson et al. NEURON
- Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)
- (2010) Laura E. Cox et al. PLoS One
- Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10
- (2010) Misti C. White et al. PLoS Genetics
- A new subtype of frontotemporal lobar degeneration with FUS pathology
- (2009) M. Neumann et al. BRAIN
- Parkinson's Disease Patient-Derived Induced Pluripotent Stem Cells Free of Viral Reprogramming Factors
- (2009) Frank Soldner et al. CELL
- Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
- (2009) Jeong-Sun Ju et al. JOURNAL OF CELL BIOLOGY
- Inhibition of Autophagy Induction Delays Neuronal Cell Loss Caused by Dysfunctional ESCRT-III in Frontotemporal Dementia
- (2009) J.-A Lee et al. JOURNAL OF NEUROSCIENCE
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
- (2009) C. Vance et al. SCIENCE
- Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
- (2009) T. J. Kwiatkowski et al. SCIENCE
- Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation
- (2008) Matthew J. Winton et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Induced pluripotent stem cells from a spinal muscular atrophy patient
- (2008) Allison D. Ebert et al. NATURE
- Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons
- (2008) J. T. Dimos et al. SCIENCE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search