Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

doi:10.1093/brain/awt270

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Article

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Brain : a journal of neurology - 1 Dec 2013

Harlalka Gaurav V, Lehman Anna, Chioza Barry, Baple Emma L, Maroofian Reza, Cross Harold, Sreekantan-Nair Ajith, Priestman David A, Al-Turki Saeed, McEntagart Meriel E, Proukakis Christos, Royle Louise, Kozak Radoslaw P, Bastaki Laila, Patton Michael, Wagner Karin, Coblentz Roselyn, Price Joy, Mezei Michelle, Schlade-Bartusiak Kamilla, Platt Frances M, Hurles Matthew E, Crosby Andrew H

Abstract excerpt

Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the lysosomal storage diseases. Although many glycosphingolipid catabolic defects have been defined, only one proven...

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PMID: 24103911
DOI: 10.1093/brain/awt270
PMCID: PMC3859217

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