Strategies for dissecting the complexity of neurodevelopmental disorders

J Sun, S Noss, D Banerjee, M Das, S Girirajan - Trends in Genetics, 2024 - cell.com
Neurodevelopmental disorders (NDDs) are associated with a wide range of clinical features,
affecting multiple pathways involved in brain development and function. Recent advances in …

[HTML][HTML] Comparing stem cells, transdifferentiation and brain organoids as tools for psychiatric research

A Bellon - Translational psychiatry, 2024 - nature.com
The inaccessibility of neurons coming directly from patients has hindered our understanding
of mental illnesses at the cellular level. To overcome this obstacle, six different cellular …

[HTML][HTML] A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

MA van Boven, M Mestroni, PJG Zwijnenburg… - Molecular …, 2024 - nature.com
Abstract Synaptotagmin-1 (Syt1) is a presynaptic calcium sensor with two calcium binding
domains, C2A and C2B, that triggers action potential-induced synchronous neurotransmitter …

[HTML][HTML] Granulocyte macrophage colony-stimulating factor-induced macrophages of individuals with autism spectrum disorder adversely affect neuronal dendrites …

R Takada, M Toritsuka, T Yamauchi, R Ishida… - Molecular Autism, 2024 - Springer
Background A growing body of evidence suggests that immune dysfunction and
inflammation in the peripheral tissues as well as the central nervous system are associated …

Neuroimmune mechanisms in autism etiology-untangling a complex problem using human cellular models

JM Vacharasin, JA Ward, MM McCord… - Oxford Open …, 2024 - academic.oup.com
Autism spectrum disorder (ASD) affects 1 in 36 people and is more often diagnosed in males
than in females. Core features of ASD are impaired social interactions, repetitive behaviors …

Understanding copy number variations through their genes: a molecular view on 16p11. 2 deletion and duplication syndromes

R Leone, C Zuglian, R Brambilla… - Frontiers in Pharmacology, 2024 - frontiersin.org
Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions
that affect> 4% of children worldwide, share common features and present a variegated …

Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11. 2 deletion autism neural precursor cells

S Prem, B Dev, C Peng, M Mehta, R Alibutud… - Elife, 2024 - elifesciences.org
Autism spectrum disorder (ASD) is defined by common behavioral characteristics, raising
the possibility of shared pathogenic mechanisms. Yet, vast clinical and etiological …

Design of iPSC-based cell model to study the functions of the UBE2A gene

A Bogomazova, AV Fedorenko, EA Khomyakova… - Genes & Cells, 2024 - genescells.ru
BACKGROUND: The UBE2A protein belongs to the E2 family of ubiquitin-binding enzymes
involved in the ubiquitination of substrate proteins. Mutations in the UBE2A gene lead to …