Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
about
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophyGlobal regulation of alternative splicing during myogenic differentiationThe pathobiology of splicingElevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophyCorrection of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophyDefining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSEpigenetics and Triplet-Repeat Neurological DiseasesCongenital and childhood myotonic dystrophy: Current aspects of disease and future directionsThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialMyotonic dystrophy: is a narrow focus obscuring the rest of the field?Mechanisms of RNA-induced toxicity in CAG repeat disordersThe unstable repeats--three evolving faces of neurological diseaseAn EMT-driven alternative splicing program occurs in human breast cancer and modulates cellular phenotypeStructural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1The neurogenetics of alternative splicingIdentification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotypeAlternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1Genetic and chemical modifiers of a CUG toxicity model in DrosophilaExpression analysis of an evolutionarily conserved alternative splicing factor, Sfrs10, in age-related macular degenerationA postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heartRNA and diseaseDisease Phenotypes in a Mouse Model of RNA Toxicity Are Independent of Protein Kinase Cα and Protein Kinase CβNKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity.Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicityAge of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1).The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicingNew function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeatsReversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophyUltrasound-enhanced delivery of morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model miceCUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.Computational investigation of RNA CUG repeats responsible for myotonic dystrophy 1Muscleblind-like 1 is required for normal heart valve development in vivo.Mechanistic determinants of MBNL activityExpanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features.Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophyIdentification of erythroid-enriched gene expression in the mouse embryonic yolk sac using microdissected cells.
P2860
Q24311381-79289BAF-1A4F-4563-9A45-F9C17775BE49Q24617996-EF6AF7D1-3F24-47D7-B300-784584806ADCQ24632881-56637757-ED47-4619-B222-0732D60380F9Q24634680-0C769F7B-9B49-4ECF-AC16-B917E030BBE1Q24670706-8AD66CC5-45BC-451D-A68D-B87DC62CBACEQ24679378-4A100852-C4C3-4A0A-9088-754F70FDF607Q24682706-0448EA96-C2BB-44DA-BAA4-9A664F0362A2Q26750577-2113D05A-1733-40D4-AC0E-0A66CC3F6CA9Q26770705-76C9DC3F-6B77-473A-8344-0FBA9E9D1D92Q26777206-7A5340F1-1A5C-4A8F-BF68-1988B65D81F5Q26781422-7770C27C-77EC-4C62-A030-7654C9470D76Q26830455-0DDA9492-92B4-48C4-A20D-75AF13BA10E5Q26860030-41795ED0-EB45-4055-8A62-94FF126893FCQ27025923-75B902F4-6112-472C-B163-69332992EF29Q27339197-6AC70DA7-1FAC-45D6-B9CB-D7AFB46FD574Q27653016-891B111E-D206-437F-8325-518E7DA9BDE3Q28069349-CD859260-4B5A-441B-93CF-A052888711C7Q28115791-AF7FB6F1-C4F9-431A-ABEE-1D2D0881FCC4Q28244232-E1FD993F-9731-4D40-92C1-E73AC5885845Q28472129-3B8CAEFA-641B-4A90-87B7-83FADEBDA62AQ28582788-E9387C16-E35A-4BD5-9C27-EDCC7FB6C86EQ28593731-B28F10D7-532A-4640-9335-1059F01742CDQ29615183-7B3CF0EF-56EB-4A44-A109-6B963454CAE0Q30275866-529247F6-1F70-43FE-A5D8-EBF8B4FACE8BQ30361778-6ECD6944-BDBE-4E51-ABA2-A812E634C2BEQ30408570-A165D047-345D-4886-A2E7-FA30F0B67BA3Q30417185-913F93FD-2497-4153-953F-C0859362C395Q30424920-3B3E6192-DEA6-41FA-9517-B485057B5336Q30427374-20B642C4-4559-4E74-8707-CE0C7DEBFD17Q30435398-DA155EA1-04D8-4E94-B7EA-C97C3E3A7BF3Q30441256-627B0774-A9FC-47A6-80F5-E399281FA865Q30452003-72D1E251-0CF3-40B0-8FC8-FC7340AFB879Q30496276-D753BFE6-EB83-41CA-ABE1-FF3B75079148Q30668605-36AF2320-C808-4D25-BB0D-C11689E5E65FQ30668792-DA3FF1A6-AC16-45FC-B49E-FC4008C046FFQ30830825-F9E82308-E1BD-4838-9435-9D4AD130F275Q30854929-990F9CDD-DE71-49AA-A2D7-4BFD8E855EF5Q30855205-0EAC85CE-A819-436C-9380-9CC4997B061CQ31053307-ADA28FCF-7F9B-4628-95E7-4805EC4CDB9CQ33316068-D801D48C-492A-4B17-A59A-5CFC0B8D21A6
P2860
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@ast
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en-gb
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@nl
type
label
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@ast
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en-gb
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@nl
prefLabel
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@ast
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en-gb
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@nl
P2093
P2860
P3181
P356
P1476
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
@en
P2093
Ami Mankodi
Charles A Thornton
Jill W Miller
Maurice S Swanson
Rahul N Kanadia
Richard T Moxley
Xiaoyan Lin
P2860
P304
P3181
P356
10.1093/HMG/DDL132
P407
P577
2006-07-01T00:00:00Z