Article

Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis

2023-05-28

Abstract excerpt

<h4>ABSTRACT</h4> Tubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders characterized by abnormal brain development resulting in structural brain malformations. Tubulinopathies are caused by dominant missense mutations in genes encoding for tubulins, the building blocks of microtubules. Neurodevelopmental ciliopathies are mostly recessive disorders caused by defects in the functio...

Topics

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

Identifiers and source

Literature Corpus work: 4ee27680-7bae-544e-81c9-cb354edbf6d0
DOI: 10.1101/2023.05.23.23290232

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Brain development mutations in the β-tubulin TUBB result in defective ciliogenesisDOI 10.1101/2023.05.23.23290232Read

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Semantic proximity Read

<i>TUBB4B</i>variants specifically impact ciliary function, causing a ciliopathic spectrumSemantic proximity Read

Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.Semantic proximity Read

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Semantic proximity Read

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.Semantic proximity Read

Tubulin mutations in human neurodevelopmental disorders.Semantic proximity Read

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.Semantic proximity Read

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.Semantic proximity Read

<i>TUBA1A</i> mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activitySemantic proximity Read

The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathySemantic proximity Read

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?Semantic proximity Read

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.Semantic proximity Read