2017
DOI: 10.1042/bcj20160616
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Cellular and disease functions of the Prader–Willi Syndrome geneMAGEL2

Abstract: Melanoma antigen L2 (MAGEL2 or MAGE-L2) is a member of the MAGE family of ubiquitin ligase regulators. It is maternally imprinted and often paternally deleted or mutated in the related neurodevelopmental syndromes, Prader-Willi Syndrome (PWS) and Schaaf-Yang Syndrome (SHFYNG). MAGEL2 is highly expressed in the hypothalamus and plays an important role in a fundamental cellular process that recycles membrane proteins from endosomes through the retromer sorting pathway. MAGEL2 is part of a multi-subunit protein c… Show more

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Cited by 71 publications
(81 citation statements)
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References 127 publications
(190 reference statements)
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“…Therefore, truncating variants in MAGEL2 may result in abnormal truncated protein products through a gain-of-function mechanism. Although several articles have raised the possibility of a dominant negative mechanism [5,15], it seems that a gain-offunction mechanism is the most likely pathological mechanism because there is no proof that MAGEL2 forms multimers. MAGEL2 belongs to the MAGE family proteins that were initially identified as tumor-specific antigens [25].…”
Section: Discussionmentioning
confidence: 99%
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“…Therefore, truncating variants in MAGEL2 may result in abnormal truncated protein products through a gain-of-function mechanism. Although several articles have raised the possibility of a dominant negative mechanism [5,15], it seems that a gain-offunction mechanism is the most likely pathological mechanism because there is no proof that MAGEL2 forms multimers. MAGEL2 belongs to the MAGE family proteins that were initially identified as tumor-specific antigens [25].…”
Section: Discussionmentioning
confidence: 99%
“…MAGEL2 is known to bind and to enhance the activity of the TRIM27 E3 RING ubiquitin ligase. The MAGEL2-USP7-TRIM27 (MUST) complex plays an important role in a cellular process that recycles membrane proteins from endosomes through the [15,27,28]. Thus, dysregulation of this pathway may be associated with the pathogenesis of SYS.…”
Section: Discussionmentioning
confidence: 99%
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“…We examined Cyfip1, Cyfip2, and Magel2 transcript levels in the hypothalamus, a brain region important for hyperphagia in PWS 40 and for the effects of Magel2 deletion 53,54 on eating behavior and homeostatic function 55 . Haploinsufficiency of MAGEL2 is associated with PWS-like hyperphagia in humans 54,56,57 .…”
Section: Hypothalamus Dissections For Real-time Quantitative Pcr (Qpcr)mentioning
confidence: 99%
“…We also examined Magel2 which is a nearby imprinted gene that is located within the syntenic, canonical (Type II) PWS locus and has been implicated in changes in eating behavior in mouse models of PWS 55 and PWS-like hyperphagia in humans 54,56,57 . Supplementary Table 3 lists the qPCR results as a function of both Cyfip1 haploinsufficiency and PO.…”
Section: Reduced Transcription Of Cyfip1 But Not Cyfip2 or Magel2 In mentioning
confidence: 99%