Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. - Wikidata - wikimedia - TriplyDB

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

http://www.wikidata.org/entity/Q37006949

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Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy Modeling spinal muscular atrophy in Drosophila Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies A positive modifier of spinal muscular atrophy in the SMN2 gene Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy.Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy 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 SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation Small molecule suppressors of Drosophila kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism SMN in spinal muscular atrophy and snRNP biogenesis High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function.The COPI vesicle complex binds and moves with survival motor neuron within axons.ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation.Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.Modifier effects between regulatory and protein-coding variation.Emerging therapies and challenges in spinal muscular atrophy Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy.Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy Conserved genes act as modifiers of invertebrate SMN loss of function defects Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Proteomic assessment of a cell model of spinal muscular atrophy

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Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

http://www.wikidata.org/entity/Q37006949

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on April 2008

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@en

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@nl

type

label

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@en

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@nl

prefLabel

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@en

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

@nl

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SCIENCE.1155085

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P1476

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.

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Brunhilde Wirth

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Christine E Beattie

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Gabriela E Oprea

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Gary J Bassell

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Michelle L McWhorter

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Sandra Kröber

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Stefan Müller

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Wilfried Rossoll

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P2860

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

Cytoskeletal dynamics and transport in growth cone motility and axon guidance

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

Identification and characterization of a spinal muscular atrophy-determining gene

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

Differential regulation of human T-plastin gene in leukocytes and non-leukocytes: identification of the promoter, enhancer, and CpG island.

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

Plastins: versatile modulators of actin organization in (patho)physiological cellular processes.

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524-527

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scholarly article

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10.1126/SCIENCE.1155085

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5875

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320

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Michael Krawczak

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2008-04-01T00:00:00Z

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18440926

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spinal muscular atrophy

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4908855

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