Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. - Wikidata - awgldk - TriplyDB

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

http://www.wikidata.org/entity/Q36407722

about

From animal models to human disease: a genetic approach for personalized medicine in ALS There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Toward precision medicine in amyotrophic lateral sclerosis ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration A system for studying mechanisms of neuromuscular junction development and maintenance Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.RNA phase transitions in repeat expansion disorders.Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging.Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes.Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia 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.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains.Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral Sclerosis.αCAR IGF-1 vector targeting of motor neurons ameliorates disease progression in ALS mice.C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.Dysfunction of autophagy as the pathological mechanism of motor neuron disease based on a patient-specific disease model.A retrospective review of the progress in amyotrophic lateral sclerosis drug discovery over the last decade and a look at the latest strategies.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Old versus New Mechanisms in the Pathogenesis of ALS.Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.Advances in the Development of Disease-Modifying Treatments for Amyotrophic Lateral Sclerosis.Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.

P2860

Q26741250-ACBA4554-2D78-4704-AD31-EA20B34D1847 Q26750577-B31375DC-E11A-48EC-8D00-21F56A298D70 Q26764950-25DDD48C-9FD9-4ADB-9347-9A21D27EE1F2 Q26774824-F2C2B1D2-8254-4F0E-80DD-64E91EB3726A Q28468581-336299F2-86B0-4639-BB35-46A20D8D1D0C Q28829196-61F4DD46-D5A6-496E-B79F-5E7269715F5F Q28854599-0C250625-8E84-495F-9A4A-BC2ACE5827F2 Q29465536-65A54EF4-CA66-4EDE-A1E4-E4E819151EC6 Q30224330-654C2BEF-7846-4480-9102-EFF3BBB57D67 Q30313960-86AB1B34-1760-4A3B-BBE3-362DD364BE98 Q30667424-DE6A397F-39D7-48DE-8059-D9B1D5746369 Q30827515-FA7C9766-BE41-4820-832C-45AC1EF72E41 Q30832877-14267269-21E2-4425-A423-326D8CB45B19 Q33614771-995018C1-539A-4A01-9E57-3A2CC0F91106 Q33614811-2F09C4E8-57CB-4520-822F-A2183797170E Q33746245-35A59B0E-593D-496A-AD19-71FB73BA831E Q33863540-75A5B664-5B99-454B-9D6E-99565037A085 Q33875570-68AB9B62-94EE-4211-B48E-48E3758FC48F Q35776562-958D889E-7D30-4502-B111-2653703BAEA2 Q35904463-C3FE6F5C-10FB-4E74-8136-65D99F68E885 Q36073675-F8458B57-B914-4E5D-85A3-DD70D0194B44 Q36108576-5F0EA9B0-66C7-404D-8B1A-C3CB0CB12FF9 Q36304922-11B0E2F0-54CE-4FE3-9C21-6FEBABD2498E Q36353773-0091E130-6AA9-4DD3-B176-F5C69CA799BD Q36555249-E81B38D4-2533-43E0-8B74-148FE3940821 Q36690906-55D8FA27-4A23-4567-A828-8BDA688D421B Q36788842-9225D406-350F-4577-ADE5-1B9ABA5B2ECB Q36880235-DFCD1ABD-E157-4AE2-B6AE-683750B76361 Q37079670-94FFDBC6-F845-4A01-A902-B8BF3C3408B8 Q37307491-26EC51EB-FE49-4A39-8C21-CD391906F670 Q37476206-B2DEAE1F-2875-46A7-8CE8-B51A35F93FC9 Q38382217-516AE268-2298-42FC-AC50-5C79F95304AE Q38432287-FC4850A6-FC81-4C54-BB3B-801C7AC81036 Q38556198-391DCD4A-D7D8-4BC5-956F-294743D6E670 Q38573829-9DF26A0D-C077-41FD-9427-250F38CCA5A5 Q38626056-F4877EFA-64E9-4468-93B7-3D2621686228 Q38700722-48870EA5-6DF0-4FA2-930D-6C8B2D8DC275 Q38739863-6C0CF2FA-D973-41ED-98C7-73457EF5E569 Q38741121-7B182AC2-E4C2-43AF-B4EF-8C9D77DF7EF0 Q38741408-F4D07804-8822-4AA4-8E13-40E525358D81

P2860

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.

http://www.wikidata.org/entity/Q36407722

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@ast

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@en

type

label

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@ast

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@en

prefLabel

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@ast

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@en

P1433

Q36407722-5FB0C56A-4195-473B-A81B-EBE8265DFE04

P1476

Q36407722-C56B8AB2-7E3F-447A-8844-F2BF3C0D5745

P2093

Q36407722-01486E79-4775-401F-8F69-C312667A81C9

Q36407722-0CAD7AF6-5C4B-4DBE-AB1A-66A5DD9FBB5A

Q36407722-16ABA62F-A10C-4403-B260-6FDD5C526D5C

Q36407722-17391189-12F8-4457-832E-9C2CE94966E6

Q36407722-2A3B8C67-1301-422E-A949-6ECB7BF526B4

Q36407722-2C4B5B78-78D7-44A8-B7A5-55925B38CCA7

Q36407722-2CA22848-F7D8-4082-AA1D-E3EEEF098EAE

Q36407722-306C39F9-66F0-40EB-A422-ABAED0737E67

Q36407722-476B3A1F-06BF-4D0E-BBD6-FD561CE343E5

Q36407722-4B67A560-6BD7-4D36-9DDD-63ADF2F202E8

P2860

Q36407722-0061EA4A-871D-4908-9776-7CE904AB768F

Q36407722-07B43675-CD98-4DE4-BF55-0AE6EE98235B

Q36407722-0F533D4A-0800-429F-B7B8-39B96C51248A

Q36407722-18352188-1BAC-478F-8EB5-990496E1291B

Q36407722-2105E813-A0EE-4CD3-A8BF-FCAD2DD95A91

Q36407722-21247216-29FF-405E-A323-FD967DD71447

Q36407722-264212E1-DD07-4536-8B86-4740A7B39F67

Q36407722-2E161694-35A2-4FFE-AAC6-563F8E649341

Q36407722-30918941-342A-4D1A-AED4-1F5C7196B19E

Q36407722-40418AE4-27C0-4273-890B-EAE40C01298A

P304

Q36407722-4DA7D03D-1AF2-4B3A-89EE-F41170EE2E0B

P31

Q36407722-EF09F181-C2E1-4A42-8D76-F9B320B0772F

P356

Q36407722-6C0C5C8F-F15B-450F-BE05-70D295DB995B

P407

Q36407722-2A426A0B-F36E-430E-AAA7-E6F0E65CD8DA

P433

Q36407722-605945D7-98C0-4843-AEBA-1363EB725540

P478

Q36407722-18043804-2F68-4A69-B317-A242C5E7E969

P50

Q36407722-8DCB1F78-2857-41B0-8D4A-15A184CB8A75

Q36407722-D122E98A-6342-4EC8-A902-1922BA5A0D3B

Q36407722-DE37419A-278E-482D-98A1-455C15F53244

P577

Q36407722-8FF562F3-60E2-4EA9-A368-F43C330D97D3

P698

Q36407722-8604BC6C-D16C-46AF-9A95-BCC15DCD8AC9

P932

Q36407722-363C5E46-3C5F-4AFE-889C-E5F158A6184E

P356

SCIENCE.AAA9344

P1433

P1476

Neurodegeneration. C9ORF72 rep ...... loss, and behavioral deficits.

@en

P2093

Aishe Kurti

http://www.w3.org/2001/XMLSchema#string

Amelia Johnston

http://www.w3.org/2001/XMLSchema#string

Caroline Stetler

http://www.w3.org/2001/XMLSchema#string

Chris W Lee

http://www.w3.org/2001/XMLSchema#string

Dennis W Dickson

http://www.w3.org/2001/XMLSchema#string

Emilie A Perkerson

http://www.w3.org/2001/XMLSchema#string

Ena C Whitelaw

http://www.w3.org/2001/XMLSchema#string

Hiroki Sasaguri

http://www.w3.org/2001/XMLSchema#string

Jeannette N Stankowski

http://www.w3.org/2001/XMLSchema#string

Jeannie Chew

http://www.w3.org/2001/XMLSchema#string

P2860

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Cognitive and behavioral features of c9FTD/ALS

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

Severe amygdala dysfunction in a MAPT transgenic mouse model of frontotemporal dementia

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

P304

1151-1154

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1126/SCIENCE.AAA9344

http://www.w3.org/2001/XMLSchema#string

P407

P433

6239

http://www.w3.org/2001/XMLSchema#string

P478

348

http://www.w3.org/2001/XMLSchema#string

P50

Rosa Rademakers

Leonard Petrucelli

P577

2015-05-14T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25977373

http://www.w3.org/2001/XMLSchema#string

P932

4692360

http://www.w3.org/2001/XMLSchema#string