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。Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders
Lara Marrone et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2022)
Poly(ADP-ribose) drives condensation of FUS via a transient interaction
Kevin Rhine et al.
MOLECULAR CELL (2022)
Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis
Vladislav A. Korobeynikov et al.
NATURE MEDICINE (2022)
Karyopherin-mediated nucleocytoplasmic transport
Casey E. Wing et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2022)
Liquid-Liquid Phase Separation of TDP-43 and FUS in Physiology and Pathology of Neurodegenerative Diseases
Jenny L. Carey et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2022)
Gene Therapy Advances: A Meta-Analysis of AAV Usage in Clinical Settings
Hau Kiu Edna Au et al.
FRONTIERS IN MEDICINE (2022)
Nuclear-Import Receptors Counter Deleterious Phase Transitions in Neurodegenerative Disease
Hana M. Odeh et al.
JOURNAL OF MOLECULAR BIOLOGY (2022)
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim et al.
NATURE COMMUNICATIONS (2022)
Current Clinical Applications of In Vivo Gene Therapy with AAVs
Jerry R. Mendell et al.
MOLECULAR THERAPY (2021)
The clinical landscape for AAV gene therapies
Dmitry A. Kuzmin et al.
NATURE REVIEWS DRUG DISCOVERY (2021)
FUS and TDP-43 Phases in Health and Disease
Bede Portz et al.
TRENDS IN BIOCHEMICAL SCIENCES (2021)
FUS-dependent liquid-liquid phase separation is important for DNA repair initiation
Brunno R. Levone et al.
JOURNAL OF CELL BIOLOGY (2021)
Mechanism of karyopherin-β2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X)
Abner Gonzalez et al.
SCIENTIFIC REPORTS (2021)
Combating deleterious phase transitions in neurodegenerative disease
April L. Darling et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2021)
(Dis)Solving the problem of aberrant protein states
Charlotte M. Fare et al.
DISEASE MODELS & MECHANISMS (2021)
Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss
Olga Shubina-Oleinik et al.
SCIENCE ADVANCES (2021)
TDP-43 condensation properties specify its RNA-binding and regulatory repertoire
Martina Hallegger et al.
CELL (2021)
The phase separation-dependent FUS interactome reveals nuclear and cytoplasmic function of liquid-liquid phase separation
Stefan Reber et al.
NUCLEIC ACIDS RESEARCH (2021)
Higher-order organization of biomolecular condensates
Charlotte M. Fare et al.
OPEN BIOLOGY (2021)
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
Danique Beijer et al.
JCI INSIGHT (2021)
The RNA-binding protein FUS is chaperoned and imported into the nucleus by a network of import receptors
Imke Baade et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2021)
Loss of Dynamic RNA Interaction and Aberrant Phase Separation Induced by Two Distinct Types of ALS/FTD-Linked FUS Mutations
Amirhossein Ghanbari Niaki et al.
MOLECULAR CELL (2020)
The Hitchhiker's Guide to Nucleocytoplasmic Trafficking in Neurodegeneration
Stephen Moore et al.
NEUROCHEMICAL RESEARCH (2020)
C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import
Lindsey R. Hayes et al.
ELIFE (2020)
ALS/FTD-associated protein FUS induces mitochondrial dysfunction by preferentially sequestering respiratory chain complex mRNAs
Yueh-Lin Tsai et al.
GENES & DEVELOPMENT (2020)
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
Jack Humphrey et al.
NUCLEIC ACIDS RESEARCH (2020)
Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD
Claudia Fallini et al.
NEUROBIOLOGY OF DISEASE (2020)
Nuclear Import Receptors Directly Bind to Arginine-Rich Dipeptide Repeat Proteins and Suppress Their Pathological Interactions
Saskia Hutten et al.
CELL REPORTS (2020)
ALS/FTLD-Linked Mutations in FUS Glycine Residues Cause Accelerated Gelation and Reduced Interactions with Wild-Type FUS
Kevin Rhine et al.
MOLECULAR CELL (2020)
Karyopherin-beta 2 Inhibits and Reverses Aggregation and Liquid-liquid Phase Separation of the ALS/FTD-Associated Protein FUS
Emma Robinson et al.
BIO-PROTOCOL (2020)
The molecular language of membraneless organelles
Edward Gomes et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43
Jacob R. Mann et al.
NEURON (2019)
Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death
Fatima Gasset-Rosa et al.
NEURON (2019)
Spiraling in Control: Structures and Mechanisms of the Hsp104 Disaggregase
James Shorter et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2019)
Aberrant Phase Transitions: Side Effects and Novel Therapeutic Strategies in Human Disease
Veronica Verdile et al.
FRONTIERS IN GENETICS (2019)
Chronic optogenetic induction of stress granules is cytotoxic and reveals the evolution of ALS-FTD pathology
Peipei Zhang et al.
ELIFE (2019)
Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis
Giulia E. Tyzack et al.
BRAIN (2019)
Mining Disaggregase Sequence Space to Safely Counter TDP-43, FUS, and α-Synuclein Proteotoxicity
Amber Tariq et al.
CELL REPORTS (2019)
Stress granules and neurodegeneration
Benjamin Wolozin et al.
NATURE REVIEWS NEUROSCIENCE (2019)
Differences between acute and chronic stress granules, and how these differences may impact function in human disease
Lucas C. Reineke et al.
BIOCHEMICAL PHARMACOLOGY (2019)
Therapeutic Dissolution of Aberrant Phases by Nuclear-Import Receptors
Lin Guo et al.
TRENDS IN CELL BIOLOGY (2019)
Nuclear Import Receptor Inhibits Phase Separation of FUS through Binding to Multiple Sites
Takuya Yoshizawa et al.
CELL (2018)
Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation
Mario Hofweber et al.
CELL (2018)
Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains
Lin Guo et al.
CELL (2018)
FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions
Seema Qamar et al.
CELL (2018)
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation
Hiroya Naruse et al.
NEUROBIOLOGY OF AGING (2018)
ALS mutations of FUS suppress protein translation and disrupt the regulation of nonsense-mediated decay
Marisa Kamelgarn et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Potentiating Hsp104 activity via phosphomimetic mutations in the middle domain
Amber Tariq et al.
FEMS YEAST RESEARCH (2018)
Genetic mutations in RNA-binding proteins and their roles in ALS
Katannya Kapeli et al.
HUMAN GENETICS (2017)
FUS inclusions disrupt RNA localization by sequestering kinesin-1 and inhibiting microtubule detyrosination
Kyota Yasuda et al.
JOURNAL OF CELL BIOLOGY (2017)
Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases
Hong Joo Kim et al.
NEURON (2017)
RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration
Daisuke Ito et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS
Philippe Corcia et al.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2017)
Cytoplasmic stress granules: Dynamic modulators of cell signaling and disease
Hicham Mahboubi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
RNA-binding proteins with prion-like domains in health and disease
Alice Ford Harrison et al.
BIOCHEMICAL JOURNAL (2017)
Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease
Zachary M. March et al.
BRAIN RESEARCH (2016)
Mechanistic and Structural Insights into the Prion-Disaggregase Activity of Hsp104
Elizabeth A. Sweeny et al.
JOURNAL OF MOLECULAR BIOLOGY (2016)
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS
Qing Liu et al.
NEUROLOGY (2016)
Karyopherin-β2 Recognition of a PY-NLS Variant that Lacks the Proline-Tyrosine Motif
Michael Soniat et al.
STRUCTURE (2016)
Principles and Properties of Stress Granules
David S. W. Protter et al.
TRENDS IN CELL BIOLOGY (2016)
Disparate Mutations Confer Therapeutic Gain of Hsp104 Function
Meredith E. Jackrel et al.
ACS CHEMICAL BIOLOGY (2015)
Nuclear localization signals for four distinct karyopherin-β nuclear import systems
Michael Soniat et al.
BIOCHEMICAL JOURNAL (2015)
Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization
Amandine Molliex et al.
CELL (2015)
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation
Avinash Patel et al.
CELL (2015)
ALS mutations in TLS/FUS disrupt target gene expression
Tristan H. Coady et al.
GENES & DEVELOPMENT (2015)
The Hsp104 N-Terminal Domain Enables Disaggregase Plasticity and Potentiation
Elizabeth A. Sweeny et al.
MOLECULAR CELL (2015)
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Brian D. Freibaum et al.
NATURE (2015)
Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
Ana Jovicic et al.
NATURE NEUROSCIENCE (2015)
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function
Tetsuro Murakami et al.
NEURON (2015)
Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1
Sami J. Barmada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Metabolic and Chaperone Gene Loss Marks the Origin of Animals: Evidence for Hsp104 and Hsp78 Chaperones Sharing Mitochondrial Enzymes as Clients
Albert J. Erives et al.
PLOS ONE (2015)
Potentiated Hsp104 Variants Antagonize Diverse Proteotoxic Misfolding Events
Meredith E. Jackrel et al.
CELL (2014)
Self-assembled FUS binds active chromatin and regulates gene transcription
Liuqing Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA-FUS regulatory circuitry
Stefano Dini Modigliani et al.
NATURE COMMUNICATIONS (2014)
Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis
Julien Couthouis et al.
PLOS GENETICS (2014)
Protein aggregation in amyotrophic lateral sclerosis
Anna M. Blokhuis et al.
ACTA NEUROPATHOLOGICA (2013)
RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations
J. Gavin Daigle et al.
HUMAN MOLECULAR GENETICS (2013)
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
Caroline Vance et al.
HUMAN MOLECULAR GENETICS (2013)
Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis
Mario Sabatelli et al.
HUMAN MOLECULAR GENETICS (2013)
Stress granules as crucibles of ALS pathogenesis
Yun R. Li et al.
JOURNAL OF CELL BIOLOGY (2013)
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Hong Joo Kim et al.
NATURE (2013)
Structure of a Truncation Mutant of the Nuclear Export Factor CRM1 Provides Insights into the Auto-Inhibitory Role of Its C-Terminal Helix
Cyril Dian et al.
STRUCTURE (2013)
Complex Energy Landscape of a Giant Repeat Protein
Maksym Tsytlonok et al.
STRUCTURE (2013)
A Proline-Tyrosine Nuclear Localization Signal (PY-NLS) Is Required for the Nuclear Import of Fission Yeast PAB2, but Not of Human PABPN1
Pierre-Luc Mallet et al.
TRAFFIC (2013)
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
Oliver D. King et al.
BRAIN RESEARCH (2012)
Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels
Masato Kato et al.
CELL (2012)
Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS
Dorothee Dormann et al.
EMBO JOURNAL (2012)
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
Julien Couthouis et al.
HUMAN MOLECULAR GENETICS (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
NIH Image to ImageJ: 25 years of image analysis
Caroline A. Schneider et al.
NATURE METHODS (2012)
FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis
William Sproviero et al.
NEUROBIOLOGY OF AGING (2012)
P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis
Amelia Conte et al.
NEUROMUSCULAR DISORDERS (2012)
FUS-NLS/Transportin 1 Complex Structure Provides Insights into the Nuclear Targeting Mechanism of FUS and the Implications in ALS
Chunyan Niu et al.
PLOS ONE (2012)
Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS)
Zi Chao Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
RNA targets of wild-type and mutant FET family proteins
Jessica I. Hoell et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)
RNA-binding proteins with prion-like domains in ALS and FTLD-U
Aaron D. Gitler et al.
PRION (2011)
A yeast functional screen predicts new candidate ALS disease genes
Julien Couthouis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
A Yeast Model of FUS/TLS-Dependent Cytotoxicity
Shulin Ju et al.
PLOS BIOLOGY (2011)
Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS
Zhihui Sun et al.
PLOS BIOLOGY (2011)
Recognition of nuclear targeting signals by Karyopherin-β proteins
Darui Xu et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2010)
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
Dorothee Dormann et al.
EMBO JOURNAL (2010)
Prion-like disorders: blurring the divide between transmissibility and infectivity
Mimi Cushman et al.
JOURNAL OF CELL SCIENCE (2010)
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Ian R. A. Mackenzie et al.
LANCET NEUROLOGY (2010)
Effect of Genome Size on AAV Vector Packaging
Zhijian Wu et al.
MOLECULAR THERAPY (2010)
A new subtype of frontotemporal lobar degeneration with FUS pathology
Manuela Neumann et al.
BRAIN (2009)
Eukaryotic Stress Granules: The Ins and Outs of Translation
J. Ross Buchan et al.
MOLECULAR CELL (2009)
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
T. J. Kwiatkowski et al.
SCIENCE (2009)
The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases
Konstanze F. Winklhofer et al.
EMBO JOURNAL (2008)
Modular organization and combinatorial energetics of proline-tyrosine nuclear localization signals
Katherine E. Suel et al.
PLOS BIOLOGY (2008)
Hsp104: A weapon to combat diverse neurodegenerative disorders
James Shorter
NEUROSIGNALS (2008)
Conformational heterogeneity of karyopherinβ2 is segmental
Ahmet E. Cansizoglu et al.
STRUCTURE (2007)
Structure-based design of a pathway-specific nuclear import inhibitor
Ahmet E. Cansizoglu et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2007)
High-efficiency yeast transformation using the LiAc/SS carrier DNA/PEG method
R. Daniel Gietz et al.
NATURE PROTOCOLS (2007)
Rules for nuclear localization sequence recognition by karyopherinβ2
Brittany J. Lee et al.
CELL (2006)
Two motifs essential for nuclear import of the hnRNP A1 nucleocytoplasmic shuttling sequence M9
M Iijima et al.
FEBS LETTERS (2006)
Conformational variability of nucleo-cytoplasmic transport factors
N Fukuhara et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Dominant gain-of-function mutations in Hsp104p reveal crucial roles for the middle region
EC Schirmer et al.
MOLECULAR BIOLOGY OF THE CELL (2004)
Importin β contains a COOH-terminal nucleoporin binding region important for nuclear transport
J Bednenko et al.
JOURNAL OF CELL BIOLOGY (2003)
Uncoupling Kapβ2 substrate dissociation and ran binding
YM Chook et al.
BIOCHEMISTRY (2002)
Karyopherins and nuclear import
YM Chook et al.
CURRENT OPINION IN STRUCTURAL BIOLOGY (2001)
Structural basis for the interaction between FxFG nucleoporin repeats and importin-β in nuclear trafficking
R Bayliss et al.
CELL (2000)
分享论文
