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Article

Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.

International journal of molecular sciences - 23 Jul 2022

González-Jiménez Adela, López-Cotarelo Pilar, Agudo-Jiménez Teresa, Casanova Ignacio, Silanes Carlos López de, Martín-Requero Ángeles, Matesanz Fuencisla, Urcelay Elena, Espino-Paisán Laura

Abstract excerpt

Deficiencies in Mannosidase β (MANBA) are associated with neurological abnormalities and recurrent infections. The single nucleotide polymorphism located in the 3′UTR of MANBA, rs7665090, was found to be associated with multiple sclerosis (MS) susceptibility. We aimed to study the functional impact of this polymorphism in lymphocytes isolated from MS patients and healthy controls. A total of 152 MS patients and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35897697
DOI: 10.3390/ijms23158116
PMCID: PMC9331056

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