Article

TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers

2024-10-07

Abstract excerpt

<h4>ABSTRACT</h4> Copy number variation (CNV) in the 16p11.2 (BP4-BP5) genomic locus is strongly associated with autism. Carriers of 16p11.2 deletion and duplication exhibit several common behavioral and social impairments, yet, show opposing brain structural changes and body mass index. To determine cellular mechanisms that might contribute to these opposing phenotypes, we performed quantitative tandem mass tag...

Topics

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

Identifiers and source

Literature Corpus work: 7c513eef-ab39-5e55-8897-c770c897901b
DOI: 10.1101/2024.10.07.617069

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication CarriersDOI 10.1101/2024.10.07.617069Read

TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriersSemantic proximity Read

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.Semantic proximity Read

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.Semantic proximity Read

Neurodevelopmental disorder associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinaseSemantic proximity Read

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisSemantic proximity Read

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.Semantic proximity Read

A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stabilitySemantic proximity Read

Patient brain organoids identify a link between the 16p11.2 copy number variant and the <i>RBFOX1</i> geneSemantic proximity Read

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in AutismSemantic proximity Read

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.Semantic proximity Read

Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Semantic proximity Read

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.Semantic proximity Read