Article

PACS-1 variant protein is aberrantly localized in <i>C. elegans</i> model of PACS1/PACS2 syndromes

2024-04-26

Abstract excerpt

PACS (Phosphofurin Acidic Cluster Sorting Protein) proteins are known for their roles in sorting cargo proteins to organelles and can physically interact with WD40 repeat-containing protein WDR37. PACS1, PACS2, and WDR37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and auti...

Topics

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

Identifiers and source

Literature Corpus work: 3474c7ac-323b-5424-ac93-fe8aede4adc9
DOI: 10.1101/2024.04.22.590644

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

PACS-1 variant protein is aberrantly localized in <i>C. elegans</i> model of PACS1/PACS2 syndromesDOI 10.1101/2024.04.22.590644Read

PACS1 syndrome variant alters proteomic landscape of developing cortical organoidsSemantic proximity Read

The Structural Basis for Pacs1-Wdr37 Complex Assembly and StabilitySemantic proximity Read

Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.Semantic proximity Read

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.Semantic proximity Read

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.Semantic proximity Read

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Semantic proximity Read

Interactome Analysis of the CC2D1A Scaffold Reveals Novel Neuronal Interactions and a Postsynaptic RoleSemantic proximity Read

The <i>C. elegans</i> homolog of <i>TMEM132D</i> , a human panic-disorder and anxiety risk gene, modulates neuronal morphogenesis through the WAVE-regulatory complexSemantic proximity Read

Overlapping expression patterns and functions of three paralogous P5B ATPases in Caenorhabditis elegans.Semantic proximity Read

FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Semantic proximity Read

RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome miceSemantic proximity Read

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.Semantic proximity Read