Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
出版年份 2015 全文链接
标题
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
作者
关键词
-
出版物
Autophagy
Volume 11, Issue 6, Pages 928-938
出版商
Informa UK Limited
发表日期
2015-06-15
DOI
10.1080/15548627.2015.1043077
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。- Lysosomal Storage Diseases: From Pathophysiology to Therapy
- (2015) Giancarlo Parenti et al. Annual Review of Medicine
- A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders
- (2014) Margherita Mutarelli et al. BMC GENOMICS
- Novel roles for the MiTF/TFE family of transcription factors in organelle biogenesis, nutrient sensing, and energy homeostasis
- (2014) José A. Martina et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Molecular Pathways: Autophagy in Cancer—A Matter of Timing and Context
- (2014) Michelle Cicchini et al. CLINICAL CANCER RESEARCH
- Impairment of homeostasis in lysosomal storage disorders
- (2014) Laura Segatori IUBMB LIFE
- A Hyaluronan Receptor for Endocytosis (HARE) Link DomainN-Glycan Is Required for Extracellular Signal-regulated Kinase (ERK) and Nuclear Factor-κB (NF-κB) Signaling in Response to the Uptake of Hyaluronan but Not Heparin, Dermatan Sulfate, or Acetylated Low Density Lipoprotein (LDL)
- (2014) Madhu S. Pandey et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Autophagy—a key player in cellular and body metabolism
- (2014) Kook Hwan Kim et al. Nature Reviews Endocrinology
- Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
- (2014) A. Beilina et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Endocytosis, Signaling, and Beyond
- (2014) P. P. Di Fiore et al. Cold Spring Harbor Perspectives in Biology
- The Biogenesis of Lysosomes and Lysosome-Related Organelles
- (2014) J. P. Luzio et al. Cold Spring Harbor Perspectives in Biology
- MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
- (2014) Marco Savarese et al. Acta Neuropathologica Communications
- Oxysterol-binding proteins: Functions in cell regulation beyond lipid metabolism
- (2013) Marion Weber-Boyvat et al. BIOCHEMICAL PHARMACOLOGY
- Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
- (2013) Katrin Kollmann et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- NCL diseases — clinical perspectives
- (2013) Angela Schulz et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders
- (2013) Shale Dames et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Next generation molecular diagnosis of mitochondrial disorders
- (2013) Lee-Jun C. Wong MITOCHONDRION
- An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters
- (2013) Agnès Chapel et al. MOLECULAR & CELLULAR PROTEOMICS
- TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop
- (2013) Carmine Settembre et al. NATURE CELL BIOLOGY
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Signals from the lysosome: a control centre for cellular clearance and energy metabolism
- (2013) Carmine Settembre et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Autophagy in Human Health and Disease
- (2013) Augustine M.K. Choi et al. NEW ENGLAND JOURNAL OF MEDICINE
- Lysosomal Membrane Proteins and Their Central Role in Physiology
- (2013) Michael Schwake et al. TRAFFIC
- Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
- (2012) Jennifer J. Johnston et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- CLN5 and CLN8 protein association with ceramide synthase: Biochemical and proteomic approaches
- (2012) Saria El Haddad et al. ELECTROPHORESIS
- A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB
- (2012) Carmine Settembre et al. EMBO JOURNAL
- Genetic insights in Alzheimer's disease
- (2012) Karolien Bettens et al. LANCET NEUROLOGY
- Autophagy modulation as a potential therapeutic target for diverse diseases
- (2012) David C. Rubinsztein et al. NATURE REVIEWS DRUG DISCOVERY
- A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
- (2011) Alexander Zimprich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systems biology of the autophagy-lysosomal pathway
- (2011) Anil G. Jegga et al. Autophagy
- Microautophagy in mammalian cells: Revisiting a 40-year-old conundrum
- (2011) Dalibor Mijaljica et al. Autophagy
- Molecular signatures database (MSigDB) 3.0
- (2011) A. Liberzon et al. BIOINFORMATICS
- Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways
- (2011) Michela Palmieri et al. HUMAN MOLECULAR GENETICS
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- The cellular pathology of lysosomal diseases
- (2011) Timothy M Cox et al. JOURNAL OF PATHOLOGY
- The Role of Autophagy in Cancer: Therapeutic Implications
- (2011) Z. J. Yang et al. MOLECULAR CANCER THERAPEUTICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function
- (2011) Vincenzo Belcastro et al. NUCLEIC ACIDS RESEARCH
- NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
- (2011) K. D. Pruitt et al. NUCLEIC ACIDS RESEARCH
- TFEB Links Autophagy to Lysosomal Biogenesis
- (2011) C. Settembre et al. SCIENCE
- Clarifying lysosomal storage diseases
- (2011) Mark L. Schultz et al. TRENDS IN NEUROSCIENCES
- UniProt Knowledgebase: a hub of integrated protein data
- (2011) M. Magrane et al. Database-The Journal of Biological Databases and Curation
- Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations
- (2010) Ju-Hyun Lee et al. CELL
- The Autophagy Connection
- (2010) Daniel J. Klionsky DEVELOPMENTAL CELL
- Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
- (2010) D. L. Goode et al. GENOME RESEARCH
- Autophagy basics
- (2010) Isei Tanida MICROBIOLOGY AND IMMUNOLOGY
- Network organization of the human autophagy system
- (2010) Christian Behrends et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Entrez Gene: gene-centered information at NCBI
- (2010) D. Maglott et al. NUCLEIC ACIDS RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Reactome: a database of reactions, pathways and biological processes
- (2010) D. Croft et al. NUCLEIC ACIDS RESEARCH
- The proteome of lysosomes
- (2010) Bernd A. Schröder et al. PROTEOMICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology
- (2009) David E. Sleat et al. MOLECULAR & CELLULAR PROTEOMICS
- Autophagy regulates lipid metabolism
- (2009) Rajat Singh et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
- (2009) E. Sidransky et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Gene Network Regulating Lysosomal Biogenesis and Function
- (2009) Marco Sardiello et al. SCIENCE
- Proteomics of the lysosome
- (2008) Torben Lübke et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Lysosomal disorders: From storage to cellular damage
- (2008) Andrea Ballabio et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- AmiGO: online access to ontology and annotation data
- (2008) Seth Carbon et al. BIOINFORMATICS
- The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease
- (2008) T. Pan et al. BRAIN
- Eating the enemy within: autophagy in infectious diseases
- (2008) A Orvedahl et al. CELL DEATH AND DIFFERENTIATION
- Lipid-transfer proteins in biosynthetic pathways
- (2008) Giovanni D’Angelo et al. CURRENT OPINION IN CELL BIOLOGY
- Function and dysfunction of the PI system in membrane trafficking
- (2008) Mariella Vicinanza et al. EMBO JOURNAL
- Autophagy fights disease through cellular self-digestion
- (2008) Noboru Mizushima et al. NATURE
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
- McKusick's Online Mendelian Inheritance in Man (OMIM(R))
- (2008) J. Amberger et al. NUCLEIC ACIDS RESEARCH
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