Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
出版年份 2019 全文链接
标题
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
作者
关键词
-
出版物
Scientific Reports
Volume 9, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-09-19
DOI
10.1038/s41598-019-50102-6
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。- Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules
- (2018) Sebastian Markmiller et al. CELL
- High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies
- (2018) Ji-Young Youn et al. MOLECULAR CELL
- Ceramide Synthase Schlank Is a Transcriptional Regulator Adapting Gene Expression to Energy Requirements
- (2018) Mariangela Sociale et al. Cell Reports
- C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress
- (2016) Niran Maharjan et al. MOLECULAR NEUROBIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Principles and Properties of Stress Granules
- (2016) David S.W. Protter et al. TRENDS IN CELL BIOLOGY
- Internalized Tau sensitizes cells to stress by promoting formation and stability of stress granules
- (2016) Cecilia A. Brunello et al. Scientific Reports
- Poly(A)-binding proteins and mRNA localization: who rules the roost?
- (2015) N. K. Gray et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- A Human Interactome in Three Quantitative Dimensions Organized by Stoichiometries and Abundances
- (2015) Marco Y. Hein et al. CELL
- Tissue-based map of the human proteome
- (2015) M. Uhlen et al. SCIENCE
- Auxiliary subunits of the CKAMP family differentially modulate AMPA receptor properties
- (2015) Paul Farrow et al. eLife
- Poly(A)-binding proteins: Structure, domain organization, and activity regulation
- (2014) I. A. Eliseeva et al. BIOCHEMISTRY-MOSCOW
- Rare Copy Number Variation in Treatment-Resistant Major Depressive Disorder
- (2014) Colm O’Dushlaine et al. BIOLOGICAL PSYCHIATRY
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- mRNP granules
- (2014) J Ross Buchan RNA Biology
- Prevalent RNA recognition motif duplication in the human genome
- (2014) Y. S. Tsai et al. RNA
- RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum
- (2013) Matthew Thomas et al. BRAIN
- “Atypical” atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide
- (2013) Maria Stamelou et al. MOVEMENT DISORDERS
- Parkinson's Disease and Parkinsonism: Neuropathology
- (2013) D. W. Dickson Cold Spring Harbor Perspectives in Medicine
- Stress Granules Inhibit Apoptosis by Reducing Reactive Oxygen Species Production
- (2012) M. Takahashi et al. MOLECULAR AND CELLULAR BIOLOGY
- Regulated protein aggregation: stress granules and neurodegeneration
- (2012) Benjamin Wolozin Molecular Neurodegeneration
- An anatomically comprehensive atlas of the adult human brain transcriptome
- (2012) Michael J. Hawrylycz et al. NATURE
- Fiji: an open-source platform for biological-image analysis
- (2012) Johannes Schindelin et al. NATURE METHODS
- The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules
- (2011) S. A. Kunde et al. HUMAN MOLECULAR GENETICS
- TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1
- (2011) Karli K. McDonald et al. HUMAN MOLECULAR GENETICS
- Nuclear relocalisation of cytoplasmic poly(A)-binding proteins PABP1 and PABP4 in response to UV irradiation reveals mRNA-dependent export of metazoan PABPs
- (2011) H. M. Burgess et al. JOURNAL OF CELL SCIENCE
- TDP-43 and FUS: a nuclear affair
- (2011) Dorothee Dormann et al. TRENDS IN NEUROSCIENCES
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
- (2010) Daryl A. Bosco et al. HUMAN MOLECULAR GENETICS
- Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease
- (2010) A. J. Espay et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue
- (2010) Liqun Liu-Yesucevitz et al. PLoS One
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Unravelling the ultrastructure of stress granules and associated P-bodies in human cells
- (2009) S. Souquere et al. JOURNAL OF CELL SCIENCE
- Definite multiple system atrophy in a German family
- (2009) U Wullner et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Neuropathological Aspects of Alzheimer Disease, Parkinson Disease and Frontotemporal Dementia
- (2008) Kurt A. Jellinger Neurodegenerative Diseases
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started