Article

KIAA1109 is required for survival and for normal development and function of the neuromuscular junction in mice

2022-02-25

Abstract excerpt

KIAA1109 (4932438A13Rik) is a novel gene linked to Alkuraya-Kucinska Syndrome, an autosomal recessive disorder with severe brain malformations and arthrogryposis in humans. The role of KIAA1109 in mammalian development and function remains poorly understood. Here, we characterize mutant mice deficient in Kiaa1109 ( Kiaa1109 −/− ). We report that Kiaa1109 −/− mice died during perinatal stages. These Kiaa1109...

Topics

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

Identifiers and source

Literature Corpus work: 5852252e-318e-5177-abbd-1eba94419705
DOI: 10.1101/2022.02.23.481678

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

KIAA1109 is required for survival and for normal development and function of the neuromuscular junction in miceDOI 10.1101/2022.02.23.481678Read

Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.Semantic proximity Read

Structural and functional alterations of neuromuscular synapses in a mouse model of <i>ACTA1</i> congenital myopathySemantic proximity Read

The MuSK-BMP pathway regulates synaptic Nav1.4 localization and muscle excitabilitySemantic proximity Read

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interactionSemantic proximity Read

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Semantic proximity Read

Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndromeSemantic proximity Read

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctionsSemantic proximity Read

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic developmentSemantic proximity Read

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.Semantic proximity Read

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variantsSemantic proximity Read

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.Semantic proximity Read

Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.Semantic proximity Read