Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation-Reference-Cited by-同舟云学术

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation

Published:2019-01-07 Issue:3 Volume:29 Page:229-241
ISSN:1460-2423
Container-title:Glycobiology
language:en
Short-container-title:

Author:

Indellicato Rossella¹,Parini Rossella²³,Domenighini Ruben¹,Malagolini Nadia⁴,Iascone Maria⁵,Gasperini Serena²,Masera Nicoletta²,dall’Olio Fabio⁴,Trinchera Marco⁶^ORCID

Affiliation:

1. Department of Health Sciences, San Paolo Hospital, University of Milan, via A. di Rudinì 8, Milano, Italy

2. Department of Pediatrics, University Milano Bicocca, Fondazione MBBM, San Gerardo Hospital, via Pergolesi 33, Monza, Italy

3. San Raffaele Telethon Institute for Gene Therapy (TIGET), San Raffaele Scientific Institute, via Olgettina 60, Milano, Italy

4. Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, via San Giacomo 14, Bologna, Italy

5. Laboratory of Genetics, Papa Giovanni XXIII Hospital, Piazza OMS 1, Bergamo, Italy

6. Department of Medicine and Surgery (DMC), University of Insubria, via JH Dunant 5, Varese, Italy

Publisher

Oxford University Press (OUP)

Subject

Biochemistry

Link

http://academic.oup.com/glycob/article-pdf/29/3/229/27898356/cwy112.pdf

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3. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation;Boccuto;Hum Mol Genet,2014

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5. West syndrome caused by ST3Gal-III deficiency;Edvardson;Epilepsia,2013

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