An SMN-dependent U12 splicing event essential for motor circuit function - Wikidata - awgldk - TriplyDB

An SMN-dependent U12 splicing event essential for motor circuit function

An SMN-dependent U12 splicing event essential for motor circuit function

http://www.wikidata.org/entity/Q41856470

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Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?Spinal muscular atrophy: from gene discovery to clinical trials Spinal muscular atrophy: development and implementation of potential treatments Small molecule suppressors of Drosophila kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy SMN is required for sensory-motor circuit function in Drosophila.Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy.Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice.Mutations in spliceosomal proteins and retina degeneration A novel functional role for MMSET in RNA processing based on the link between the REIIBP isoform and its interaction with the SMN complex Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction.Neural Circuits Underlying Fly Larval Locomotion Sensory neurons do not induce motor neuron loss in a human stem cell model of spinal muscular atrophy Defining the therapeutic window in a severe animal model of spinal muscular atrophy Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.Assays for the identification and prioritization of drug candidates for spinal muscular atrophy ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets GEMINs: potential therapeutic targets for spinal muscular atrophy?Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation.Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons Spinal Muscular Atrophy Therapeutics: Where do we Stand?Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.Spinal muscular atrophy: diagnosis and management in a new therapeutic era A cell system for phenotypic screening of modifiers of SMN2 gene expression and function.Spinal muscular atrophy: from tissue specificity to therapeutic strategies SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.The Gemin associates of survival motor neuron are required for motor function in Drosophila.ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Molecular biology. A splicing magic bullet.Spinal muscular atrophy: journeying from bench to bedside The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins.Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila.Disease mechanisms and therapeutic approaches in spinal muscular atrophy.SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy.Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells.The survival motor neuron gene smn-1 interacts with the U2AF large subunit gene uaf-1 to regulate Caenorhabditis elegans lifespan and motor functions.α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth

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P2860

An SMN-dependent U12 splicing event essential for motor circuit function

http://www.wikidata.org/entity/Q41856470

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

An SMN-dependent U12 splicing event essential for motor circuit function

@en

type

label

An SMN-dependent U12 splicing event essential for motor circuit function

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prefLabel

An SMN-dependent U12 splicing event essential for motor circuit function

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J.CELL.2012.09.012

P1433

P1476

An SMN-dependent U12 splicing event essential for motor circuit function

@en

P2093

Christine E Beattie

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

Darrick K Li

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

Erin S Beck

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

Francesco Lotti

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

George Z Mentis

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

Le T Hao

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

Luciano Saieva

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

Wei Jiao

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

P2860

Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy

Modeling spinal muscular atrophy in Drosophila

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

U12DB: a database of orthologous U12-type spliceosomal introns

Genome-wide atlas of gene expression in the adult mouse brain

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

The divergent U12-type spliceosome is required for pre-mRNA splicing and is essential for development in Drosophila

A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila

A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy

Identification and characterization of a spinal muscular atrophy-determining gene

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440-454

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scholarly article

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10.1016/J.CELL.2012.09.012

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2

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151

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Wendy L. Imlach

Livio Pellizzoni

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2012-10-01T00:00:00Z

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232246144

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23063131

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3474596

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