Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.

doi:10.1038/nm.3046

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Article

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.

Nature medicine - 1 Feb 2013

Luxán Guillermo, Casanova Jesús C, Martínez-Poveda Beatriz, Prados Belén, D'Amato Gaetano, MacGrogan Donal, Gonzalez-Rajal Alvaro, Dobarro David, Torroja Carlos, Martinez Fernando, Izquierdo-García José Luis, Fernández-Friera Leticia, Sabater-Molina María, Kong Young-Y, Pizarro Gonzalo, Ibañez Borja, Medrano Constancio, García-Pavía Pablo, Gimeno Juan R, Monserrat Lorenzo, Jiménez-Borreguero Luis J, de la Pompa José Luis

Abstract excerpt

Left ventricular noncompaction (LVNC) causes prominent ventricular trabeculations and reduces cardiac systolic function. The clinical presentation of LVNC ranges from asymptomatic to heart failure. We show that germline mutations in human MIB1 (mindbomb homolog 1), which encodes an E3 ubiquitin ligase that promotes endocytosis of the NOTCH ligands DELTA and JAGGED, cause LVNC in autosomal-dominant pedigrees, with...

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Identifiers

PMID: 23314057
DOI: 10.1038/nm.3046

Genes

MIB1
NOTCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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