Article

Neurofibromin is essential to maintain metabolic function and sustain life in the adult mouse

2018-05-16

Abstract excerpt

The consequences of pathogenic variants in the NF1 gene can manifest in numerous tissues as a result of loss of neurofibromin protein function(s). A known function of NF1 is negative regulation of p21ras signaling via a GTPase activating (Ras-GAP) domain. Besides modulation of Ras signaling as a tumor suppressor, other functions of this multi-domain protein are less clear. Biallelic inactivation of NF1 leads to...

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Literature Corpus work: 2ea5b34f-3c70-59d3-a923-06506fc89c0d
DOI: 10.1101/324061

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