Publications by authors named "F Tran Mau-Them"
RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is necessary for brain development. Here, we report eight unrelated patients presenting with intellectual disability and/or development delay and carrying variants in the RICTOR gene.
View Article and Find Full Text PDFRationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Article Synopsis
- - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
- - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
- - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
Article Synopsis
- - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
- - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
- - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.
Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.