Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

Abstract Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Hypomorphic heterozygous alleles have been oc...

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Main Authors: Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri
Format: Article
Language:English
Published: Springer Nature 2015-04-01
Series:EMBO Molecular Medicine
Subjects:
CADASIL
cerebral arteriopathy
exome
leukoencephalopathy
NOTCH3
Online Access:https://doi.org/10.15252/emmm.201404399
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https://doi.org/10.15252/emmm.201404399

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