Search Results - "Rylaarsdam, Lauren"

Genetic Causes and Modifiers of Autism Spectrum Disorder by Rylaarsdam, Lauren, Guemez-Gamboa, Alicia

“…Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically…”
Get full text

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity by Rylaarsdam, Lauren, Rakotomamonjy, Jennifer, Pope, Eleanor, Guemez-Gamboa, Alicia

“…PACS1 syndrome is a neurodevelopmental disorder characterized by intellectual disability and distinct craniofacial abnormalities resulting from a de novo…”
Get full text

sciMET-cap: high-throughput single-cell methylation analysis with a reduced sequencing burden by Acharya, Sonia N, Nichols, Ruth V, Rylaarsdam, Lauren E, O'Connell, Brendan L, Braun, Theodore P, Adey, Andrew C

“…DNA methylation is a key component of the mammalian epigenome, playing a regulatory role in development, disease, and other processes. Robust, high-throughput…”
Get full text

Mitochondria, ER, and nuclear membrane defects reveal early mechanisms for upper motor neuron vulnerability with respect to TDP-43 pathology by Gautam, Mukesh, Jara, Javier H., Kocak, Nuran, Rylaarsdam, Lauren E., Kim, Ki Dong, Bigio, Eileen H., Hande Özdinler, P.

“…Insoluble aggregates containing TDP-43 are widely observed in the diseased brain, and defined as “TDP-43 pathology” in a spectrum of neurodegenerative…”
Get full text

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model by Rakotomamonjy, Jennifer, Rylaarsdam, Lauren, Fares-Taie, Lucas, McDermott, Sean, Davies, Devin, Yang, George, Fagbemi, Fikayo, Epstein, Maya, Fairbanks-Santana, Martín, Rozet, Jean-Michel, Guemez-Gamboa, Alicia

“…Protocadherins (PCDHs) are cell adhesion molecules that regulate many essential neurodevelopmental processes related to neuronal maturation, dendritic arbor…”
Get full text

GLUT1 is associated with sphingolipid-organized, cholesterol-independent domains in L929 mouse fibroblast cells by Rylaarsdam, Lauren E., Johnecheck, Grace N., Looyenga, Brendan D., Louters, Larry L.

“…Glucose is a preferred metabolite in most mammalian cells, and proper regulation of uptake is critical for organism homeostasis. The glucose transporter 1…”
Get full text

In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development by Rylaarsdam, Lauren, Reddy, Taruna, Guemez-Gamboa, Alicia

“…Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively…”
Get full text

PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye by Rakotomamonjy, Jennifer, Rylaarsdam, Lauren, Guemez-Gamboa, Alicia

“…Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this…”
Get full text

Determining Disease Mechanisms of PACS1 Syndrome ASD Using iPSC-Derived Models by Rylaarsdam, Lauren

“…Autism spectrum disorder (ASD) and intellectual disability (ID) are two of the most highly prevalent neurodevelopmental disorders (NDDs), each affecting…”
Get full text