Article

Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndrome

2022-09-07

Abstract excerpt

<h4>ABSTRACT</h4> THOC6 is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports mammalian mRNA processing that is distinct from yeast TREX dimer functions. Human and mouse TIDS model systems allow novel THOC6-dependent TREX tetramer func...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ed1501cf-5b59-59e0-8afb-e6ef29d31683
DOI: 10.1101/2022.09.06.506502

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndromeDOI 10.1101/2022.09.06.506502Read

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndromeSemantic proximity Read

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.Semantic proximity Read

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.Semantic proximity Read

Human hHpr1/p84/Thoc1 regulates transcriptional elongation and physically links RNA polymerase II and RNA processing factors.Semantic proximity Read

Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.Semantic proximity Read

<i>XPOT</i> Deficiency causes a human disorder through impaired tRNA nuclear exportSemantic proximity Read

Biallelic <i>TANGO1</i> mutations cause a novel syndromal disease due to hampered cellular collagen secretionSemantic proximity Read

The THO complex in Schizosaccharomyces pombe-dissecting the composition and functional hierarchy.Semantic proximity Read

The role of TREX in gene expression and diseaseSemantic proximity Read

The Prp19C subunits Cwc15 and Syf2 function in TREX occupancy and transcription elongationSemantic proximity Read

The THO complex as a key mRNP biogenesis factor in development and cell differentiation.Semantic proximity Read

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processingSemantic proximity Read