Publications by authors named "Chantal Bijnagte-Schoenmaker"
Article Synopsis
- - Sialic acid, particularly N-acetylneuraminic acid, is abundant in the brain and is important for brain development, learning, and memory, although its exact role is still unclear.
- - This study examined how reducing sialylation affects the network formation in human iPSC-derived neurons (iNeurons) and found that inhibiting sialic acid production led to an increase in free sialic acid but disrupted normal neuronal development.
- - The results indicated that decreased sialic acid resulted in impaired synapse and network formation, evidenced by altered firing patterns in microelectrode arrays, underscoring the necessity of sialic acid for proper neuronal connectivity during development.
NPHP1 (Nephrocystin 1) is a protein that localizes to the transition zone of the cilium, a small organelle that projects from the plasma membrane of most cells and allows for integration and coordination of signalling pathways during development and homeostasis. Loss of NPHP1 function due to biallelic NPHP1 gene mutations can lead to the development of ciliopathies - a heterogeneous spectra of disorders characterized by ciliary dysfunction. Here we report the generation of an NPHP1-null hiPSC line (UCSFi001-A-68) via CRISPR/Cas9-mediated non-homologous end joining in the UCSFi001-A background, for study of the role that this protein plays in different tissues.
View Article and Find Full Text PDFGeneration of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9.
Stem Cell Res
May 2022
CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cell lines with a gene-dosage dependent deficiency of CACNA1A.
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