Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations

S Kilpatrick, C Irwin, KK Singh - Translational Psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by
genetic or environmental perturbations during early development. Diagnoses are dependent …

Debaryomyces hansenii: an old acquaintance for a fresh start in the era of the green biotechnology

C Navarrete, M Estrada, JL Martínez - World Journal of Microbiology and …, 2022 - Springer
The halophilic yeast Debaryomyces hansenii has been studied for several decades, serving
as eukaryotic model for understanding salt and osmotic tolerance. Nevertheless, lack of …

Multiscale modeling uncovers 7q11. 23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability

M Mihailovich, PL Germain, R Shyti, D Pozzi… - The Journal of clinical …, 2024 - jci.org
Copy number variation (CNV) at 7q11. 23 causes Williams-Beuren syndrome (WBS) and 7q
microduplication syndrome (7Dup), neurodevelopmental disorders (NDDs) featuring …

Stem cell–based organoid models of neurodevelopmental disorders

L Wang, C Owusu-Hammond, D Sievert, JG Gleeson - Biological psychiatry, 2023 - Elsevier
The past decade has seen an explosion in the identification of genetic causes of
neurodevelopmental disorders, including Mendelian, de novo, and somatic factors. These …

Chromatin dynamics in human brain development and disease

AM Valencia, SP Pașca - Trends in cell biology, 2022 - cell.com
Chromatin-related genes are frequently mutated in neurodevelopmental disorders; yet, the
mechanisms by which these perturbations disrupt brain assembly and function are not …

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

A López-Tobón, R Shyti, CE Villa, C Cheroni… - Science …, 2023 - science.org
Copy number variations at 7q11. 23 cause neurodevelopmental disorders with shared and
opposite manifestations. Deletion causes Williams-Beuren syndrome featuring …

DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia

D Campolungo, M Salomé, B Biferali, AS Tascini… - Science …, 2023 - science.org
Translocations producing rearranged versions of the transcription factor double homeobox 4
(DUX4-r) are one of the most frequent causes of B cell acute lymphoblastic leukemia (B …

[HTML][HTML] 7q11. 23 Duplication Syndrome

CB Mervis, CA Morris, BP Klein-Tasman, SL Velleman… - 2021 - europepmc.org
7q11. 23 duplication syndrome is characterized by delayed motor, speech, and social skills
in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and …

Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases

L Verrillo, R Di Palma, A de Bellis, D Drongitis… - Biomolecules, 2023 - mdpi.com
Neuroplasticity is a crucial property of the central nervous system to change its activity in
response to intrinsic or extrinsic stimuli. This is mainly achieved through the promotion of …

7q11. 23 deletion and duplication

LR Osborne, CB Mervis - Current opinion in genetics & development, 2021 - Elsevier
Copy number variation (CNV) at 7q11. 23 causes distinct disorders with both contrasting
and overlapping phenotypic features of some but not all of the genes encompassed by the …