Výsledky vyhledávání - "Núñez Lucía"

Akademický článek

Regulation of mitochondrial permeability transition pore by PINK1

Autor: Gautier Clement A, Giaime Emilie, Caballero Erica, Núñez Lucía, Song Zhiyin, Chan David, Villalobos Carlos, Shen Jie

Publikováno v: Molecular Neurodegeneration, Vol 7, Iss 1, p 22 (2012)

Abstract Background Loss-of-function mutations in PTEN-induced kinase 1 (PINK1) have been linked to familial Parkinson’s disease, but the underlying pathogenic mechanism remains unclear. We previously reported that loss of PINK1 impairs mitochondri

Externí odkaz: https://doaj.org/article/678bd17aa56843db9dff0de2b8203c67

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Akademický článek

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

Autor: Maneiro Emilia, Barriales-Villa Roberto, Núñez Lucía, Cazón Laura, Fernández Xusto, Ortiz Martín, Monserrat Lorenzo, Rodríguez-García María, Veira Elena, Castro-Beiras Alfonso, Hermida-Prieto Manuel

Publikováno v: BMC Medical Genetics, Vol 11, Iss 1, p 67 (2010)

Abstract Background MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression. Our objectives were t

Externí odkaz: https://doaj.org/article/9e3c130128f0491d8aae0ad074b82a0d

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