Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
about
The pathobiology of splicingDefects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutantsThe Many Faces of Elongator in Neurodevelopment and DiseaseModify or die?--RNA modification defects in metazoansDefects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP DownregulationA neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation.Abnormal accumulation of human transmembrane (TMEM)-176A and 176B proteins is associated with cancer pathology.The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous systemOlfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomiaPhosphatidylserine increases IKBKAP levels in familial dysautonomia cellsDeletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethalityImpact of induced pluripotent stem cells on the study of central nervous system diseaseMechanisms of disease in hereditary sensory and autonomic neuropathies.Current treatments in familial dysautonomiaPatterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation.Specific correction of a splice defect in brain by nutritional supplementation.Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomiaInvolvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons.Modeling pain in vitro using nociceptor neurons reprogrammed from fibroblasts.A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismPhosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial DysautonomiaFamilial Dysautonomia: Mechanisms and ModelsElongator: an ancestral complex driving transcription and migration through protein acetylationTocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.Modulation of aberrant splicing in human RNA diseases by chemical compounds.Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders.Cellular zinc levels are modulated by TRPML1-TMEM163 interaction.MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
P2860
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P2860
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Tissue-specific reduction in s ...... ted with familial dysautonomia
@nl
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@ast
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en-gb
type
label
Tissue-specific reduction in s ...... ted with familial dysautonomia
@nl
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@ast
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en-gb
prefLabel
Tissue-specific reduction in s ...... ted with familial dysautonomia
@nl
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@ast
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en
Tissue-specific reduction in s ...... ed with familial dysautonomia.
@en-gb
P2093
P2860
P50
P3181
P356
P1476
Tissue-specific reduction in s ...... ted with familial dysautonomia
@en
P2093
Channa Maayan
David Zagzag
Felicia B Axelrod
James Mull
Maire Leyne
Sandra P Gill
Susan A Slaugenhaupt
P2860
P304
P3181
P356
10.1086/368263
P407
P577
2003-02-06T00:00:00Z