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Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients

Gravesteijn, G; Dauwerse, JG; Overzier, M; Brouwer, G; Hegeman, I; Mulder, AA; Baas, F; Kruit, MC; Terwindt, GM; van Duinen, SG; Jost, CR; Aartsma-Rus, A; Oberstein, SAJL; Rutten, JW

Rutten, JW (corresponding author), Leiden Univ, Dept Clin Genet, Med Ctr, POB 9600, NL-2300 RC Leiden, Netherlands.; Rutten, JW (corresponding author), Leiden Univ, Dept Human Genet, Med Ctr, POB 9600, NL-2300 RC Leiden, Netherlands.

HUMAN MOLECULAR GENETICS, 2020; 29 (11): 1853

Abstract

CADASIL is a vascular protein aggregation disorder caused by cysteine-altering NOTCH3 variants, leading to mid-adult-onset stroke and dementia. Here, ......

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