Back to search

Article

<i>Mid1</i> deletion leads to cognitive dysfunction in Opitz syndrome by regulates neural rhythms through the inhibition of p-Creb by PP2Ac

2024-10-09

Abstract excerpt

MID1 is an E3 ubiquitin ligase of the tripartite motif (TRIM) subfamily of RING-containing protein 1 . MID1 is involved in many basic biological processes, especially during embryonic development. Mutation, truncation or complete deletion of MID1 gene is the cause of Opitz G/BBB syndrome (OS). OS is a rare genetic disease of nervous system, which is characterized by midline structural development defects during...

Topics

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

Identifiers and source

Literature Corpus work
84dc2e2b-16b1-521c-bdb7-8bf0af435ec3
DOI
10.1101/2024.10.09.617363
Open publication

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
<i>Mid1</i> deletion leads to cognitive dysfunction in Opitz syndrome by regulates neural rhythms through the inhibition of p-Creb by PP2AcDOI 10.1101/2024.10.09.617363
The MID1 gene product in physiology and disease.Semantic proximity
The MID1 protein is a central player during development and in disease.Semantic proximity
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.Semantic proximity
The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.Semantic proximity
Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.Semantic proximity
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.Semantic proximity
Identify the regulatory network of LncRNA HAR1A in neurological development by RNA-Sequencing and bioinformatics analysis.Semantic proximity
Genetics and neurobiology of circadian clocks in mammals.Semantic proximity
The mammalian circadian clock: a network of gene expression.Semantic proximity
<i>Snord116</i> -dependent diurnal rhythm of DNA methylation in mouse cortexSemantic proximity
Mechanism of midline defect-causing mutation P151L in MID1 revealed.Semantic proximity
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.Semantic proximity
Select a neighboring publication to make it the new centre.