2024年12月25日 · STRADA (STE20 Related Adaptor Alpha) is a Protein Coding gene. Diseases associated with STRADA include Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy and Benign Epilepsy With Centrotemporal Spikes. Among its related pathways are MTOR signalling and PI3K-Akt signaling pathway.

The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

2022年8月6日 · A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with sirolimus, an m-Tor inhibitor of potential benefit to patients with this genetic mutation.

2024年12月10日 · Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.

The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also ...

Loss of function of the STRADA gene, an upstream mTOR inhibitor, causes a rare neurodevelopmental disorder characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome). Patients display a homogeneous phenotype including early-onset drug-resistant epilepsy, severe psychom …

We report a novel STRADA gene deletion of exons 7-9 in 2 sisters from nonconsanguineous parents, as well as an improvement in seizure control in 1 sibling following treatment with sirolimus, an m-Tor inhibitor of potential benefit to patients with this genetic mutation.

STRADA has 4,420 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 93 datasets.

这个基因编码的蛋白质含有STE20样的激酶结构域，但缺少对催化活性至关重要的几个残基，因此被称为“伪激酶”。 该蛋白质与丝氨酸/苏氨酸激酶11（STK11，也称为LKB1）和支架蛋白钙结合蛋白39（CAB39，也称为MO25）形成异源三聚体复合物。 该蛋白质激活STK11，导致两个蛋白质的磷酸化，并将STK11从核中排除。 该蛋白质对于STK11诱导的G1细胞周期停滞是必需的。 这个基因的突变已被证明会导致多胎羊水过多、脑过度发育和症状性癫痫（PMSE）综合征。 已发现 …