标题
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
作者
关键词
-
出版物
SCIENCE
Volume 347, Issue 6229, Pages 1436-1441
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2015-02-21
DOI
10.1126/science.aaa3650
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation
- (2015) S. Liu et al. SCIENCE
- Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
- (2014) Janet Cady et al. ANNALS OF NEUROLOGY
- A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
- (2014) Sylvie Bannwarth et al. BRAIN
- SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD
- (2014) Sarah L. Rea et al. EXPERIMENTAL CELL RESEARCH
- Translating biological findings into new treatment strategies for amyotrophic lateral sclerosis (ALS)
- (2014) Lindsay Poppe et al. EXPERIMENTAL NEUROLOGY
- Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis
- (2014) Hannah M. Kaneb et al. HUMAN MOLECULAR GENETICS
- Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species
- (2014) E. L. Scotter et al. JOURNAL OF CELL SCIENCE
- Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
- (2014) Janel O Johnson et al. NATURE NEUROSCIENCE
- Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
- (2014) Annabelle Chaussenot et al. NEUROBIOLOGY OF AGING
- Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
- (2014) Bradley N. Smith et al. NEURON
- Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation
- (2014) Yvette C. Wong et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis
- (2014) Julien Couthouis et al. PLoS Genetics
- RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum
- (2013) Matthew Thomas et al. BRAIN
- Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function
- (2013) J. Ross Buchan et al. CELL
- Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders
- (2013) Mani Ramaswami et al. CELL
- Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis
- (2013) Philip Van Damme et al. CURRENT OPINION IN NEUROLOGY
- Selective TBK1/IKKi dual inhibitors with anticancer potency
- (2013) Jijia Li et al. INTERNATIONAL JOURNAL OF CANCER
- Genetics of amyotrophic lateral sclerosis: an update
- (2013) Sheng Chen et al. Molecular Neurodegeneration
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism
- (2012) Brian A. Keller et al. ACTA NEUROPATHOLOGICA
- The genetics and neuropathology of amyotrophic lateral sclerosis
- (2012) Ammar Al-Chalabi et al. ACTA NEUROPATHOLOGICA
- Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
- (2012) Goo Jun et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The role of d-amino acids in amyotrophic lateral sclerosis pathogenesis: a review
- (2012) Praveen Paul et al. AMINO ACIDS
- Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels
- (2012) Masato Kato et al. CELL
- Toward an integrative view of Optineurin functions
- (2012) David Kachaner et al. CELL CYCLE
- Optineurin and amyotrophic lateral sclerosis
- (2012) Hirofumi Maruyama et al. Geriatrics & Gerontology International
- TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation
- (2012) Manohar Pilli et al. IMMUNITY
- Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates
- (2012) J. Korac et al. JOURNAL OF CELL SCIENCE
- Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese
- (2012) Aritoshi Iida et al. NEUROBIOLOGY OF AGING
- p62/SQSTM1/A170: Physiology and pathology
- (2012) Masaaki Komatsu et al. PHARMACOLOGICAL RESEARCH
- Novel cross-talk within the IKK family controls innate immunity
- (2011) Kristopher Clark et al. BIOCHEMICAL JOURNAL
- Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β
- (2011) Catherine E. Gleason et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Paradoxical roles of serine racemase and d-serine in the G93A mSOD1 mouse model of amyotrophic lateral sclerosis
- (2011) Misty Thompson et al. JOURNAL OF NEUROCHEMISTRY
- Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration
- (2011) Edward B. Lee et al. NATURE REVIEWS NEUROSCIENCE
- Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
- (2011) Marka van Blitterswijk et al. NEUROBIOLOGY OF AGING
- Exome sequencing reveals SPG11 mutations causing juvenile ALS
- (2011) Hussein Daoud et al. NEUROBIOLOGY OF AGING
- Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth
- (2011) P. Wild et al. SCIENCE
- Robust relationship inference in genome-wide association studies
- (2010) Ani Manichaikul et al. BIOINFORMATICS
- Mechanisms Underlying Inflammation in Neurodegeneration
- (2010) Christopher K. Glass et al. CELL
- A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression
- (2010) Edward L. Huttlin et al. CELL
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Network organization of the human autophagy system
- (2010) Christian Behrends et al. NATURE
- Mutations of optineurin in amyotrophic lateral sclerosis
- (2010) Hirofumi Maruyama et al. NATURE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Defining the Human Deubiquitinating Enzyme Interaction Landscape
- (2009) Mathew E. Sowa et al. CELL
- Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis
- (2008) Christoph Münch et al. Amyotrophic Lateral Sclerosis
- Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma
- (2008) Simon Morton et al. FEBS LETTERS
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