Identification and characterization of a spinal muscular atrophy-determining gene
about
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort studyDevelopment of a single vector system that enhances trans-splicing of SMN2 transcriptsLineage-specific gene duplication and loss in human and great ape evolutionRestoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAsAlternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophySpinal muscular atrophyEvaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acidSMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophySMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyModeling spinal muscular atrophy in DrosophilaSurvival motor neuron protein regulates stem cell division, proliferation, and differentiation in DrosophilaBis, a Bcl-2-binding protein that synergizes with Bcl-2 in preventing cell deathGemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gemsCoiled bodies and gems: Janus or gemini?Gemin4. A novel component of the SMN complex that is found in both gems and nucleoliSkeletal muscle training for spinal muscular atrophy type 3Drug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy types II and IIIDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy type IDrug treatment for spinal muscular atrophy types II and IIIhTid-1, a human DnaJ protein, modulates the interferon signaling pathwayPurification of native survival of motor neurons complexes and identification of Gemin6 as a novel componentIdentification and characterization of Gemin7, a novel component of the survival of motor neuron complexGemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assemblyThe zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptideDeficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progressionIdentification of a candidate modifying gene for spinal muscular atrophy by comparative genomicsCloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIHDcpS as a therapeutic target for spinal muscular atrophy.Biochemical and genetic evidence for a role of IGHMBP2 in the translational machineryA novel nuclear structure containing the survival of motor neurons proteinFunctional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulationTwo distinct arginine methyltransferases are required for biogenesis of Sm-class ribonucleoproteinsNeuronal apoptosis inhibitory protein is expressed in developing kidney and is regulated by PAX2pICln inhibits snRNP biogenesis by binding core spliceosomal proteinsZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies.SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome.
P2860
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P2860
Identification and characterization of a spinal muscular atrophy-determining gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Identification and characterization of a spinal muscular atrophy-determining gene
@ast
Identification and characterization of a spinal muscular atrophy-determining gene
@en
type
label
Identification and characterization of a spinal muscular atrophy-determining gene
@ast
Identification and characterization of a spinal muscular atrophy-determining gene
@en
prefLabel
Identification and characterization of a spinal muscular atrophy-determining gene
@ast
Identification and characterization of a spinal muscular atrophy-determining gene
@en
P2093
P3181
P1433
P1476
Identification and characterization of a spinal muscular atrophy-determining gene
@en
P2093
Benichou B
Clermont O
Lefebvre S
Millasseau P
Reboullet S
P304
P3181
P356
10.1016/0092-8674(95)90460-3
P407
P577
1995-01-13T00:00:00Z