Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids Article Swipe

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Linda Montavoci , Michele Dei , Gerarda Cappuccio , Maria Antonietta De Matteis , Nicola Brunetti‐Pierri , Anna Caretti , Marco Trinchera ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1016/j.jbc.2025.109330

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Lactosylceramide Glycosylation Allele Genetics ATP synthase Glycosphingolipid Biology Biochemistry Chemistry Medicine Gene Enzyme

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.jbc.2025.109330
PDF: https://www.jbc.org/action/showPdf?pii=S0021925825011792
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DOI: https://doi.org/10.1016/j.jbc.2025.109330

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Title: Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids

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Type: article

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Language: en

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Publication year: 2025

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Publication date: 2025-05-01

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Authors: Linda Montavoci, Michele Dei, Gerarda Cappuccio, Maria Antonietta De Matteis, Nicola Brunetti‐Pierri, Anna Caretti, Marco Trinchera

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Landing page: https://doi.org/10.1016/j.jbc.2025.109330

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Concepts: Lactosylceramide, Glycosylation, Allele, Genetics, ATP synthase, Glycosphingolipid, Biology, Biochemistry, Chemistry, Medicine, Gene, Enzyme

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