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。Tau PET imaging: present and future directions
Laure Saint-Aubert et al.
MOLECULAR NEURODEGENERATION (2017)
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
Tania F. Gendron et al.
SCIENCE TRANSLATIONAL MEDICINE (2017)
Immunotherapy Targeting Pathological Tau Protein in Alzheimer's Disease and Related Tauopathies
Einar M. Sigurdsson
JOURNAL OF ALZHEIMERS DISEASE (2017)
The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia
Adam S. Sperling et al.
NATURE REVIEWS CANCER (2017)
TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion
Qin Xia et al.
EMBO JOURNAL (2016)
Treatment with a Global Methyltransferase Inhibitor Induces the Intranuclear Aggregation of ALS-Linked FUS Mutant In Vitro
Sakiko Fujii et al.
NEUROCHEMICAL RESEARCH (2016)
UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome
Roland Hjerpe et al.
CELL (2016)
A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects
Simona Langellotti et al.
DISEASE MODELS & MECHANISMS (2016)
Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies
Ian R. A. Mackenzie et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Efficacy and safety of tau-aggregation inhibitor therapy in patients with mild or moderate Alzheimer's disease: a randomised, controlled, double-blind, parallel-arm, phase 3 trial
Serge Gauthier et al.
LANCET (2016)
Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia
Jonathan D. Rohrer et al.
NEUROLOGY (2016)
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
Nicholas J. Kramer et al.
SCIENCE (2016)
C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and Autophagy
Bor L. Tang
FRONTIERS IN CELLULAR NEUROSCIENCE (2016)
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
Aarti Sharma et al.
NATURE COMMUNICATIONS (2016)
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Kelly L. Williams et al.
NATURE COMMUNICATIONS (2016)
Tau-Centric Targets and Drugs in Clinical Development for the Treatment of Alzheimer's Disease
Francesco Panza et al.
BIOMED RESEARCH INTERNATIONAL (2016)
Neurofilament light chain: a biomarker for genetic frontotemporal dementia
Lieke H. Meeter et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
Evaluation of the brain-penetrant microtubule-stabilizing agent, dictyostatin, in the PS19 tau transgenic mouse model of tauopathy
Vishruti Makani et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
From animal models to human disease: a genetic approach for personalized medicine in ALS
Vincent Picher-Martel et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
Pathogenesis of FUS-associated ALS and FTD: insights from rodent models
Matthew Nolan et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)
TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins
S. Prpar Mihevc et al.
SCIENTIFIC REPORTS (2016)
Critical role of acetylation in tau-mediated neurodegeneration and cognitive deficits
Sang-Won Min et al.
NATURE MEDICINE (2015)
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
Owen M. Peters et al.
NEURON (2015)
AN AGE-RELATED REDUCTION OF BRAIN TBPH/TDP-43 LEVELS PRECEDES THE ONSET OF LOCOMOTION DEFECTS IN A DROSOPHILA ALS MODEL
L. Cragnaz et al.
NEUROSCIENCE (2015)
C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits
Jeannie Chew et al.
SCIENCE (2015)
Targeted Excision of VCP R155H Mutation by Cre-LoxP Technology as a Promising Therapeutic Strategy for Valosin-Containing Protein Disease
Angele Nalbandian et al.
HUMAN GENE THERAPY METHODS (2015)
Effects on Murine Behavior and Lifespan of Selectively Decreasing Expression of Mutant Huntingtin Allele by Supt4h Knockdown
Hui-Min Cheng et al.
PLOS GENETICS (2015)
Preventive methylene blue treatment preserves cognition in mice expressing full-length pro-aggregant human Tau
Katja Hochgraefe et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2015)
TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain
Mauricio Budini et al.
HUMAN MOLECULAR GENETICS (2015)
Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy
B. Borroni et al.
NEUROLOGICAL SCIENCES (2015)
Cerebrospinal Fluid Neurofilament Concentration Reflects Disease Severity in Frontotemporal Degeneration
Carole S. Scherling et al.
ANNALS OF NEUROLOGY (2014)
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Johnathan Cooper-Knock et al.
BRAIN (2014)
Potentiated Hsp104 Variants Antagonize Diverse Proteotoxic Misfolding Events
Meredith E. Jackrel et al.
CELL (2014)
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
Manal A. Farg et al.
HUMAN MOLECULAR GENETICS (2014)
Davunetide in patients with progressive supranuclear palsy: a randomised, double-blind, placebo-controlled phase 2/3 trial
Adam L. Boxer et al.
LANCET NEUROLOGY (2014)
Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases
Giulietta Riboldi et al.
MOLECULAR NEUROBIOLOGY (2014)
A phase 2 trial of the GSK-3 inhibitor tideglusib in progressive supranuclear palsy
Eduardo Tolosa et al.
MOVEMENT DISORDERS (2014)
Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models
Sami J. Barmada et al.
NATURE CHEMICAL BIOLOGY (2014)
The role of FUS gene variants in neurodegenerative diseases
Hao Deng et al.
NATURE REVIEWS NEUROLOGY (2014)
Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations
Nael H. Alami et al.
NEURON (2014)
Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells
Agnes L. Nishimura et al.
PLOS ONE (2014)
Antisense-mediated Exon Skipping Decreases Tau Protein Expression: A Potential Therapy For Tauopathies
Reeteka Sud et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
Yvonne S. Davidson et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2014)
A High-Content Screen Identifies Novel Compounds That Inhibit Stress-Induced TDP-43 Cellular Aggregation and Associated Cytotoxicity
Justin D. Boyd et al.
JOURNAL OF BIOMOLECULAR SCREENING (2014)
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
Ian R. Mackenzie et al.
ACTA NEUROPATHOLOGICA (2013)
Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials
Dian K. Nurputra et al.
ANNALS OF HUMAN GENETICS (2013)
Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
Yohei Iguchi et al.
BRAIN (2013)
Repeat-associated non-ATG (RAN) translation in neurological disease
John D. Cleary et al.
HUMAN MOLECULAR GENETICS (2013)
A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Julie van der Zee et al.
HUMAN MUTATION (2013)
Aminothienopyridazines and Methylene Blue Affect Tau Fibrillization via Cysteine Oxidation
Alex Crowe et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Tau pathology and neurodegeneration
Maria Grazia Spillantini et al.
LANCET NEUROLOGY (2013)
Criteria for the diagnosis of corticobasal degeneration
Melissa J. Armstrong et al.
NEUROLOGY (2013)
Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels
Fernando Bartolome et al.
NEURON (2013)
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
Peter E. A. Ash et al.
NEURON (2013)
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Christopher J. Donnelly et al.
NEURON (2013)
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Shuo-Chien Ling et al.
NEURON (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)
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Dhruv Sareen et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
Frontotemporal Dementia
David C. Perry et al.
SEMINARS IN NEUROLOGY (2013)
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
Youn-Bok Lee et al.
CELL REPORTS (2013)
Reducing TDP-43 aggregation does not prevent its cytotoxicity
Rui Liu et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2013)
The epidemiology of frontotemporal dementia
Chiadi U. Onyike et al.
INTERNATIONAL REVIEW OF PSYCHIATRY (2013)
Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats
Chia-Rung Liu et al.
CELL (2012)
Targeting Phospho-Ser422 by Active Tau Immunotherapy in the THY-Tau22 Mouse Model: A Suitable Therapeutic Approach
Laetitia Troquier et al.
CURRENT ALZHEIMER RESEARCH (2012)
Cellular Model of TAR DNA-binding Protein 43 (TDP-43) Aggregation Based on Its C-terminal Gln/Asn-rich Region
Mauricio Budini et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference
Troels Tolstrup Nielsen et al.
JOURNAL OF GENE MEDICINE (2012)
FUS and TDP43 genetic variability in FTD and CBS
Edward D. Huey et al.
NEUROBIOLOGY OF AGING (2012)
Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila
Laetitia Miguel et al.
NEUROBIOLOGY OF AGING (2012)
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
Matthis Synofzik et al.
NEUROBIOLOGY OF AGING (2012)
The Aggregation and Neurotoxicity of TDP-43 and Its ALS-Associated 25 kDa Fragment Are Differentially Affected by Molecular Chaperones in Drosophila
Jenna M. Gregory et al.
PLOS ONE (2012)
TDP-43: gumming up neurons through protein-protein and protein-RNA interactions
Emanuele Buratti et al.
TRENDS IN BIOCHEMICAL SCIENCES (2012)
ALS and Frontotemporal Dysfunction: A Review
Eugene Y. Achi et al.
NEUROLOGY RESEARCH INTERNATIONAL (2012)
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia
Katya Rascovsky et al.
BRAIN (2011)
Methylene Blue Reduces Aβ Levels and Rescues Early Cognitive Deficit by Increasing Proteasome Activity
David X. Medina et al.
BRAIN PATHOLOGY (2011)
Frontotemporal Dementia Caused by CHMP2B Mutations
A. M. Isaacs et al.
Current Alzheimer Research (2011)
FTD and ALS: A Tale of Two Diseases
R. Ferrari et al.
CURRENT ALZHEIMER RESEARCH (2011)
Phenotypic signatures of genetic frontotemporal dementia
Jonathan D. Rohrer et al.
CURRENT OPINION IN NEUROLOGY (2011)
TDP-43 regulates its mRNA levels through a negative feedback loop
Youhna M. Ayala et al.
EMBO JOURNAL (2011)
Suberoylanilide Hydroxamic Acid (Vorinostat) Up-regulates Progranulin Transcription RATIONAL THERAPEUTIC APPROACH TO FRONTOTEMPORAL DEMENTIA
Basar Cenik et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Passive Immunization with Anti-Tau Antibodies in Two Transgenic Models REDUCTION OF TAU PATHOLOGY AND DELAY OF DISEASE PROGRESSION
Xiyun Chai et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase
Anja Capell et al.
JOURNAL OF NEUROSCIENCE (2011)
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Han-Xiang Deng et al.
NATURE (2011)
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)
Biomarkers in frontotemporal lobar degenerations-Progress and challenges
William T. Hu et al.
PROGRESS IN NEUROBIOLOGY (2011)
miR-107 Regulates Granulin/Progranulin with Implications for Traumatic Brain Injury and Neurodegenerative Disease
Wang-Xia Wang et al.
AMERICAN JOURNAL OF PATHOLOGY (2010)
Tau in Alzheimer Disease and Related Tauopathies
K. Iqbal et al.
CURRENT ALZHEIMER RESEARCH (2010)
The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)
Valeria Crippa et al.
HUMAN MOLECULAR GENETICS (2010)
Immunotherapy Targeting Pathological Tau Prevents Cognitive Decline in a New Tangle Mouse Model
Allal Boutajangout et al.
JOURNAL OF NEUROSCIENCE (2010)
Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice
Ya-Fei Xu et al.
JOURNAL OF NEUROSCIENCE (2010)
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Ian R. A. Mackenzie et al.
LANCET NEUROLOGY (2010)
Enhancement of proteasome activity by a small-molecule inhibitor of USP14
Byung-Hoon Lee et al.
NATURE (2010)
MicroRNA-29b Regulates the Expression Level of Human Progranulin, a Secreted Glycoprotein Implicated in Frontotemporal Dementia
Jian Jiao et al.
PLOS ONE (2010)
A new subtype of frontotemporal lobar degeneration with FUS pathology
Manuela Neumann et al.
BRAIN (2009)
Prefilament tau species as potential targets for immunotherapy for Alzheimer disease and related disorders
Rakez Kayed et al.
CURRENT OPINION IN IMMUNOLOGY (2009)
Abnormal proteins can form aggresome in yeast: aggresome-targeting signals and components of the machinery
Yan Wang et al.
FASEB JOURNAL (2009)
VCP Mutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death
Michael A. Gitcho et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin
Dorothee Dormann et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia
Rosa Rademakers et al.
HUMAN MOLECULAR GENETICS (2008)
Granulin Mutations Associated With Frontotemporal Lobar Degeneration and Related Disorders: An Update
I. Gijselinck et al.
HUMAN MUTATION (2008)
Disturbance of nuclear and cytoplasmic TAR DNA-binding protein (TDP-43) induces disease-like redistribution, sequestration, and aggregate formation
Matthew J. Winton et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
John C. van Swieten et al.
LANCET NEUROLOGY (2008)
Tau exon 10 alternative splicing and tauopathies
Fei Liu et al.
MOLECULAR NEURODEGENERATION (2008)
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
G. D. J. Watts et al.
CLINICAL GENETICS (2007)
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments
Ian R. A. Mackenzie et al.
NEUROGENETICS (2007)
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43
Yong-Jie Zhang et al.
JOURNAL OF NEUROSCIENCE (2007)
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
Jennifer Gass et al.
HUMAN MOLECULAR GENETICS (2006)
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Manuela Neumann et al.
SCIENCE (2006)
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker et al.
NATURE (2006)
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
Marc Cruts et al.
NATURE (2006)
Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease
A. -M. Shiarli et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2006)
Genetic variability in CHMP2B and frontotemporal dementia
Parastoo Momeni et al.
NEURODEGENERATIVE DISEASES (2006)
Mutations causing neurodegenerative tauopathies
M Goedert et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2005)
Pathways of tau fibrillization
J Kuret et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2005)
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
GDJ Watts et al.
NATURE GENETICS (2004)
Promotion of hyperphosphorylation by frontotemporal dementia tau mutations
AD Alonso et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Correction of disease-associated exon skipping by synthetic exon-specific activators
L Cartegni et al.
NATURE STRUCTURAL BIOLOGY (2003)
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation
E Rabinovich et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
microRNAs: Tiny regulators with great potential
V Ambros
CELL (2001)
Correction of alternative splicing of tau in frontotemporal dementia and Parkinsonism linked to chromosome 17
B Kalbfuss et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Valosin-containing protein is a multiubiquitin chain targeting factor required in ubiquitin-proteasome degradation
RM Dai et al.
NATURE CELL BIOLOGY (2001)
Peripheral anti-Aβ antibody alters CNS and plasma Aβ clearance and decreases brain Aβ burden in a mouse model of Alzheimer's disease
RB DeMattos et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Hyperphosphorylation induces self-assembly of τ into tangles of paired helical filaments/straight filaments
AD Alonso et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Competition for microtubule-binding with dual expression of tau missense and splice isoforms
M Lu et al.
MOLECULAR BIOLOGY OF THE CELL (2001)
Neurodegenerative tauopathies
VMY Lee et al.
ANNUAL REVIEW OF NEUROSCIENCE (2001)
Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations
M Goedert et al.
JOURNAL OF NEUROCHEMISTRY (2000)
Peripherally administered antibodies against amyloid β-peptide enter the central nervous system and reduce pathology in a mouse model of Alzheimer disease
F Bard et al.
NATURE MEDICINE (2000)
分享论文
