ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.
about
From animal models to human disease: a genetic approach for personalized medicine in ALSToward precision medicine in amyotrophic lateral sclerosisRNA-Binding Proteins: Splicing Factors and DiseasePathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisThe neurogenetics of alternative splicingDefective control of pre-messenger RNA splicing in human diseaseTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Emerging mechanisms of molecular pathology in ALSContext-dependent control of alternative splicing by RNA-binding proteinsOxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutationsALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the diseaseDrosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLDAxonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis.Prevention of intestinal obstruction reveals progressive neurodegeneration in mutant TDP-43 (A315T) mice.Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.Quantitative analysis of cryptic splicing associated with TDP-43 depletion.TDP-43 suppresses tau expression via promoting its mRNA instability.Drosophila lines with mutant and wild type human TDP-43 replacing the endogenous gene reveals phosphorylation and ubiquitination in mutant lines in the absence of viability or lifespan defects.Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophyEarly retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLDDisease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-lifeLoss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity.Opposing roles of p38 and JNK in a Drosophila model of TDP-43 proteinopathy reveal oxidative stress and innate immunity as pathogenic components of neurodegeneration.Targeting RNA binding proteins involved in neurodegeneration.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viabilityALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregationLinking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents.Altered mRNP granule dynamics in FTLD pathogenesis.Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain.Rodent Models of Amyotrophic Lateral SclerosisTDP-43 and FUS en route from the nucleus to the cytoplasm.Two mutations G335D and Q343R within the amyloidogenic core region of TDP-43 influence its aggregation and inclusion formation.Stress granules as crucibles of ALS pathogenesis.
P2860
Q26741250-A067B6C2-DC36-42D5-9D77-2B3845F7C222Q26764950-2554948E-5141-49CD-8CBD-28B579CAFA55Q26823957-B9930C06-CCEF-4E7B-AF15-65AD6B350D96Q26828357-962A310D-ED3F-4FEA-BA1A-9FD149F9B163Q26863439-9E113557-284D-4CD5-9DFC-EEBEBAC6719FQ28069349-1A4F1243-C4C0-44C3-AF84-78906167AD95Q28077564-B28C509F-DD93-4774-96DC-0646856DE04AQ28080628-A89EE55A-0F41-46BE-B0E0-771E8B9F4BFBQ28081239-7F6A2AB5-6DB0-411E-868E-EE97C9C0598EQ28245737-232358B2-0795-424B-A2FC-0EC81C0179B3Q28383058-3FFA0F6A-494D-4804-BE01-5DB86658A1BAQ28392297-B94A3F03-9C6E-4D5E-816C-69D6967F65FAQ30544252-7D570C34-B2C7-4B65-B3C8-07334EBF47DDQ30573122-64F6E8AD-A3DD-48E7-A8D1-D38895A50109Q30574944-410C66BE-E2A8-46DD-A770-0B408B1B04C0Q30583228-71E32269-0A19-45D4-AA0D-87A3438DF432Q30655551-35CF6577-208A-4F37-AD10-F33B993933C2Q30848992-C212F1A2-D1AE-4977-93CA-03AC5B9F16E6Q33733914-8B9F9DD8-E908-4301-99CF-19D7A5AAC4C5Q33740999-21314973-6D5C-4D44-97AE-B23ABB0AA5CAQ33884301-4A3A8C03-3CF1-48A7-93D0-05449A497567Q33894661-911A858B-A54C-4376-A4A1-94884FB20249Q34230498-CC1BC4E3-22DB-4E4F-9CB6-8F653DFA91ABQ34408072-CBFD7B6E-7077-4FF7-998C-34A4B0946A14Q34473863-1F106D45-DD71-46B5-9816-40A2960B9B84Q34507318-7DE2B4B2-06C2-46CB-B619-8A44A016C569Q34920837-CCC1486E-9B82-4639-B010-320D4D5FF3D6Q34954162-008F7AF8-709C-484B-9D10-80DA457940B5Q35019375-6D0B0826-2A5F-4A8C-AD94-EC3CBD9F460DQ35114316-9FAF3675-B90F-4A1D-B653-7C70BFA2B916Q35114564-3586C5A5-AD5B-4B7F-A50A-24E2A5D852ACQ35115914-D107890F-1B04-4985-9481-DE5F65A70581Q35501802-585D8675-9B6A-4ABB-9BA1-FCFE974E22E9Q35540393-DFE40B39-18B9-4BE4-B876-D5F22385AAD7Q35944221-5D791373-925E-4A12-A746-A5BCBBDBF031Q36019592-4AE4AE34-4A7B-4E7E-8981-ACCD097F979AQ36034603-3DAA3316-C967-424E-B577-8EAB69E2CBAAQ36336278-DE39F858-EFFA-4C6B-99A5-5426CDBEAD45Q36748388-B59565A7-3E6D-4A10-8032-E9556BE0B4EEQ36804082-740C6726-3CCF-4A9A-8E57-03ED280E7D39
P2860
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@ast
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@en
type
label
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@ast
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@en
prefLabel
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@ast
ALS-linked TDP-43 mutations pr ...... ion or loss of nuclear TDP-43.
@en
P2093
P2860
P356
P1476
ALS-linked TDP-43 mutations pr ...... tion or loss of nuclear TDP-43
@en
P2093
Clotilde Lagier-Tourenne
Dara Ditsworth
Debbie Swing
Eveline S Arnold
Gene W Yeo
Holly B Kordasiewicz
Kevin M Clutario
Lino Tessarollo
Magdalini Polymenidou
Martin Marsala
P2860
P304
P356
10.1073/PNAS.1222809110
P407
P577
2013-02-04T00:00:00Z