Prader-Willi and Angelman syndrome (WP3998)

Homo sapiens

Authors

Kelly Janssen , Martina Summer-Kutmon , Friederike Ehrhart , Susan Coort , Egon Willighagen , Denise Slenter , Alex Pico , Anders Riutta , Kristina Hanspers , Eric Weitz , Finterly Hu , and Lars Willighagen

Activity

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Cited In

• Discovering Common Pathogenic Mechanisms of COVID-19 and Parkinson Disease: An Integrated Bioinformatics Analysis (2022).

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Disease Ontology

Prader-Willi syndrome Angelman syndrome

Pathway Ontology

disease pathway

References

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4. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, et al. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):4143–8. PubMed Europe PMC Scholia
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8. Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O’Neill MA, et al. Hum Mol Genet. 2005 Mar 1;14(5):627–37. PubMed Europe PMC Scholia
9. Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. Miller NLG, Wevrick R, Mellon PL. Hum Mol Genet. 2009 Jan 15;18(2):248–60. PubMed Europe PMC Scholia
10. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, et al. Nat Cell Biol. 2010 Jan;12(1):80–6; sup pp 1-12. PubMed Europe PMC Scholia
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13. The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B. Hum Mol Genet. 2012 Sep 15;21(18):4038–48. PubMed Europe PMC Scholia
14. Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice. Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick R, Colmers WF. PLoS Genet. 2013;9(1):e1003207. PubMed Europe PMC Scholia
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18. Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2C receptor mediated appetite. Garfield AS, Davies JR, Burke LK, Furby HV, Wilkinson LS, Heisler LK, et al. Mol Brain. 2016 Dec 8;9(1):95. PubMed Europe PMC Scholia
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22. Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders. Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. World J Biol Psychiatry. 2019 Nov;20(9):670–82. PubMed Europe PMC Scholia
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