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Skip to Search Results- 1Bush, Jason Russell
- 1Devos, Julia J
- 1Kamaludin, Ain A
- 1Mercer, Rebecca E
- 1Pravdivyi, Igor
- 1Sanderson, Matthea R
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Characterization of the Protein Interaction Networks of Necdin and MAGEL2: Insight into How Loss of These Proteins Contributes to Neurodevelopmental Disease
DownloadFall 2020
Prader-Willi Syndrome (PWS) is a neurocognitive developmental disorder that is caused by the deletion or inactivation of paternal genes in the chromosomal region 15q11-q13. The MAGEL2 and NDN (encoding necdin) genes are within the deleted region. Individuals with PWS tend to be obese due to...
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Fall 2014
An individual’s body weight is tightly regulated by balancing food intake with energy expenditure. This is accomplished in part by secretion of the hormone leptin by adipocytes, an excess of which signals to reduce appetite and increase activity through action in the hypothalamic region of the...
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Inactivation of Magel2 in a mouse model of Prader-Willi Syndrome alters autophagy in the hypothalamus and impairs muscle function
DownloadFall 2016
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder causing severe neonatal hypotonia that persists until adulthood, reduced muscle mass, and hyperphagia leading to childhood-onset obesity. PWS is caused by inactivation of several genes located on chromosome 15q11-q13, including MAGEL2....
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Investigation of the Prader-Willi syndrome protein MAGEL2 in the regulation of Forkhead box transcription factor FOXO1
DownloadSpring 2013
Prader-Willi syndrome (PWS), a genetic disorder resulting from the loss of expression of multiple genes including MAGEL2, is characterized by hyperphagia and childhood-onset obesity. These symptoms point to dysfunction in the regulation of energy homeostasis. Magel2 is highly expressed in the...
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MAGEL2 regulates leptin receptor internalization through ubiquitination pathways involving USP8 and RNF41
DownloadSpring 2017
Children with Prader-Willi syndrome have neonatal feeding difficulties, developmental delay and excessive appetite. Loss of MAGEL2 alone causes a related neurodevelopmental disorder (Schaaf-Yang syndrome) and may contribute to obesity in children with Prader-Willi syndrome who lack MAGEL2 and...
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Molecular and cellular analysis of skeletal muscle and neuronal development in a necdin-null mouse model of Prader-Willi syndrome
DownloadFall 2010
Prader-Willi syndrome (PWS) is a recurrent microdeletion syndrome characterized by severe obesity, hyperphagia, hypotonia, and developmental delay, and is caused by the loss of expression of four protein-coding genes and set of small nucleolar RNAs on chromosome 15. NDN, encoding the protein...
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Fall 2010
Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder with multiple features caused by hypothalamic deficiency, including infantile failure to thrive, hyperphagia leading to obesity, growth hormone deficiency, hypogonadism, and central adrenal insufficiency. Other features of PWS...
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Fall 2012
Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder that results from the loss of several paternally expressed genes on chromosome 15q11-q13. People with PWS have an array of phenotypes including hypotonia and early failure to thrive, hypogonadism and infertility, growth hormone...
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The role of the Prader-Willi syndrome obesity protein, MAGEL2 in the proper functioning of circadian rhythm
DownloadFall 2010
MAGEL2 is one of the five genes inactivated in Prader-Willi Syndrome (PWS), a genetic disorder, manifesting with symptoms of developmental delay and morbid obesity. Magel2 is highly expressed in the suprachiasmatic nucleus, which is the location of the central clock or circadian pacemaker. Magel2...