Abstract：
:The Notch receptors are a family of transmembrane proteins that mediate direct cell-cell interactions and control numerous cell-fate specifications in humans. The extracellular domains of mammalian Notch proteins contain 29-36 tandem epidermal growth factor-like (EGF) repeats, most of which have O-linked glycan modifications: O-glucose added by POGLUT1, O-fucose added by POFUT1 and elongated by Fringe enzymes, and O-GlcNAc added by EOGT. The extracellular domain is also N-glycosylated. Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). Here we review the characteristics of these diseases and potential molecular mechanisms.
journal_name
Mol Aspects Medjournal_title
Molecular aspects of medicineauthors
Matsumoto K,Luther KB,Haltiwanger RSdoi
10.1016/j.mam.2020.100938subject
Has Abstractpub_date
2020-12-16 00:00:00pages
100938eissn
0098-2997issn
1872-9452pii
S0098-2997(20)30140-0pub_type
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journal_title：Molecular aspects of medicine
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journal_title：Molecular aspects of medicine
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journal_title：Molecular aspects of medicine
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journal_title：Molecular aspects of medicine
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journal_title：Molecular aspects of medicine
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