NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

The position of the pathogenic NOTCH3 variant in CADASIL patients is correlated with mutant NOTCH3 protein aggregation levels within the vessel wall in skin. The fact that NOTCH3 EGFr 7–34 variants aggregate less may explain the milder CADASIL phenotype associated with these EGFr 7–34 variants.

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Bibliographic Details
Published in:Neuropathology and applied neurobiology 2022-02, Vol.48 (1)
Main Authors: Gravesteijn, Gido, Hack, Remco J., Mulder, Aat A., Cerfontaine, Minne N., van Doorn, Remco, Hegeman, Ingrid M., Jost, Carolina R., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.
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Language:English
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Summary:The position of the pathogenic NOTCH3 variant in CADASIL patients is correlated with mutant NOTCH3 protein aggregation levels within the vessel wall in skin. The fact that NOTCH3 EGFr 7–34 variants aggregate less may explain the milder CADASIL phenotype associated with these EGFr 7–34 variants.
ISSN:0305-1846
1365-2990
DOI:10.1111/nan.12751