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。C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import
Lindsey R. Hayes et al.
ELIFE (2020)
Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
Jeannie Chew et al.
MOLECULAR NEURODEGENERATION (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)
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
Yong-Jie Zhang et al.
SCIENCE (2019)
Neurofilament light chain as a biomarker in neurological disorders
Lorenzo Gaetani et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2019)
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport
Ke Zhang 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)
A single N-terminal phosphomimic disrupts TDP-43 polymerization, phase separation, and RNA splicing
Ailin Wang et al.
EMBO JOURNAL (2018)
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis
Yong-Jie Zhang et al.
NATURE MEDICINE (2018)
C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
Weiwei Cheng et al.
NATURE COMMUNICATIONS (2018)
Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers
Lieke H. H. Meeter et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)
Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease
Nobutaka Sakae et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis
Shahram Saberi et al.
ACTA NEUROPATHOLOGICA (2018)
Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics
Steven Boeynaems et al.
MOLECULAR CELL (2017)
Serum neurofilament light as a biomarker for mild traumatic brain injury in contact sports
Pashtun Shahim et al.
NEUROLOGY (2017)
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
Tania F. Gendron et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
Katelyn M. Green et al.
NATURE COMMUNICATIONS (2017)
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles
Kyung-Ha Lee et al.
CELL (2016)
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins
Yong-Jie Zhang et al.
NATURE NEUROSCIENCE (2016)
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
Yuanjing Liu et al.
NEURON (2016)
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs
Jie Jiang et al.
NEURON (2016)
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2015)
Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers
Ian R. A. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2015)
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Max Koppers et al.
ANNALS OF NEUROLOGY (2015)
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport
Ke Zhang et al.
NATURE (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)
C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
Jeannie Chew et al.
SCIENCE (2015)
Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration
Jorge Gomez-Deza et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2015)
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Sarah Mizielinska et al.
ACTA NEUROPATHOLOGICA (2013)
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
Kohji Mori et al.
ACTA NEUROPATHOLOGICA (2013)
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Tania F. Gendron et al.
ACTA NEUROPATHOLOGICA (2013)
The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation
Yong-Jie Zhang et al.
HUMAN MOLECULAR GENETICS (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Tao Zu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Clotilde Lagier-Tourenne et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Kohji Mori et al.
SCIENCE (2013)
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor
Mercedes Prudencio et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Mariely DeJesus-Hernandez et al.
NEURON (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
Agnes L. Nishimura et al.
BRAIN (2010)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Andrew C. Elden et al.
NATURE (2010)
TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity
Brian S. Johnson et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity
Yong-Jie Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Tetsuaki Arai et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
E Buratti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)