Research Publications Archive - Foundation for Prader-Willi Research | Resource Development

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome

Profound hyperphagia is a major disabling feature of Prader-Willi syndrome (PWS). Characterization of the mechanisms that underlie PWS-associated hyperphagia has been slowed by the paucity of animal models with increased food intake or obesity. Mice with a microdeletion encompassing...

Dental pulp stem cells for the study of neurogenetic disorders

Dental pulp stem cells (DPSC) are a relatively new alternative stem cell source for the study of neurogenetic disorders. DPSC can be obtained non-invasively and collected from long-distances remaining viable during transportation. These highly proliferative cells express stem cell markers and...

Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells

A major issue in studying human neurogenetic disorders, especially rare syndromes affecting the nervous system, is the ability to grow neuronal cultures that accurately represent these disorders for analysis. Although there has been some success in generating induced pluripotent stem (iPS) cells...

Paradoxical Leanness in the Imprinting Centre Deletion Mouse Model for Prader-Willi Syndrome

Prader-Willi syndrome (PWS), a neurodevelopmental disorder caused by loss of paternal gene expression from 15q11-q13, is characterised by growth retardation, hyperphagia, and obesity. However, since single gene mutation mouse models for this condition display an incomplete spectrum of the PWS...

Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS

Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique microdeletion PWS patient. We found that genes...

Efficient Generation of Hypothalamic Neurons from Human Pluripotent Stem Cells

The hypothalamus comprises neuronal clusters that are essential for body weight regulation and other physiological functions. Insights into the complex cellular physiology of this region of the brain are critical to understanding the pathogenesis of obesity, but human hypothalamic cells are largely...

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Autism spectrum disorders (ASDs) present unique challenges in the fields of genetics and neurobiology because of the clinical and molecular heterogeneity underlying these disorders. Genetic mutations found in ASD patients provide opportunities to dissect the molecular and circuit mechanisms...

Estradiol modulates Kiss1 neuronal response to ghrelin

Ghrelin is a metabolic signal regulating energy homeostasis. Circulating ghrelin levels rise during starvation and fall after a meal, and therefore, ghrelin may function as a signal of negative energy balance. Ghrelin may also act as a modulator of reproductive physiology, as acute ghrelin...

A critical view of the use of genetic tools to unveil neural circuits: the case of leptin action in reproduction

The remarkable development and refinement of the Cre-loxP system coupled with the nonstop production of new mouse models and virus vectors have impelled the growth of various fields of investigation. In this article, I will discuss the data collected using these genetic tools in our area of...

Abdominal Leanness in the Imprinting Center-Deletion Mouse Model for Prader-Willi Syndrome May Result from Excess Thermogenesis

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder caused by a lack of paternal gene expression from 15q11–q13 and is characterized by a failure to thrive in infancy, followed by impaired skeletal growth, hyperghrelinemia, reduced satiety responses, hyperphagia and obesity. We have shown...