Article
Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Genes - 14 May 2021
Martinez-Fierro Margarita L, Cabral-Pacheco Griselda A, Garza-Veloz Idalia, Acuña-Quiñones Jesus, Martinez-de-Villarreal Laura E, Ibarra-Ramirez Marisol, Beuten Joke, Sanchez-Guerrero Samantha E, Villarreal-Martinez Laura, Delgado-Enciso Ivan, Rodriguez-Sanchez Iram P, Zuñiga-Ramirez Vania Z, Cardenas-Vargas Edith, Romero-Diaz Viktor
Abstract excerpt
Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting α (ATP7A) gene. Our objective was to identify genomic alterations and circulating proteomic profiles related to MD assessing their potential roles in the clinical features of the disease. We describe the case...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.