Stem cell research - 01 October 2023
Establishment of heterozygous and homozygous SHANK3 knockout clonal pluripotent stem cells from the parental hESC line SA001 using CRISPR/Cas9.
Phelan-McDermid syndrome (PMS) is a rare genetic disease characterized by a global developmental delay with autism spectrum disorder. PMS is caused by loss of function mutations in the SHANK3 gene leading to SHANK3 protein haploinsufficiency. This study describes the generation of isogenic clones...
Bioactive materials - 01 January 2024
Advances in the engineering of the outer blood-retina barrier: From in-vitro modelling to cellular therapy.
The outer blood-retina barrier (oBRB), crucial for the survival and the proper functioning of the overlying retinal layers, is disrupted in numerous diseases affecting the retina, leading to the loss of the photoreceptors and ultimately of vision. To study the oBRB and/or its degeneration, many ...
Frontiers in pharmacology - 01 January 2023
Identification of signaling pathways modifying human dopaminergic neuron development using a pluripotent stem cell-based high-throughput screening automated system: purinergic pathways as a proof-of-principle.
Alteration in the development, maturation, and projection of dopaminergic neurons has been proposed to be associated with several neurological and psychiatric disorders. Therefore, understanding the signals modulating the genesis of human dopaminergic neurons is crucial to elucidate disease etio...
Stem cell research - 01 September 2023
CRISPR/Cas9-mediated generation of human embryonic stem cell sub-lines with HPRT1 gene knockout to model Lesch Nyhan disease.
Lesch-Nyhan disease (LND) is a X-linked genetic disease affecting boys characterized by complex neurological and neuropsychiatric symptoms. LND is caused by loss of function mutations in the HPRT1 gene leading to decrease activity of hypoxanthine-guanine phosphoribosyl transferase enzyme (HGPRT) ...
Stem cell reports - 09 May 2023
Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.
Mitochondrial dysfunction involving mitochondria-associated ER membrane (MAM) dysregulation is implicated in the pathogenesis of late-onset neurodegenerative diseases, but understanding is limited for rare early-onset conditions. Loss of the MAM-resident protein WFS1 causes Wolfram syndrome (WS),...
Stem cell research & therapy - 27 April 2023
CRISPR/Cas9 editing systems are currently used to generate mutations in a particular gene to mimic a genetic disorder in vitro. Such "disease in a dish" models based on human pluripotent stem cells (hPSCs) offer the opportunity to have access to virtually all cell types of the human body. However...