Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin-Reference-Cited by-同舟云学术

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Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin

Published:2008-09 Issue:9 Volume:100 Page:551-559
ISSN:0248-4900
Container-title:Biology of the Cell
language:en
Short-container-title:

Author:

Ruivo Raquel,Sharifi Azita,Boubekeur Samira,Morin Pierre,Anne Christine,Debacker Cécile,Graziano Jean-Charles,Sagné Corinne,Gasnier Bruno

Publisher

Wiley

Subject

Cell Biology,General Medicine

Reference15 articles.

1. Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin;Aula;Mol. Genet. Metab.,2002

2. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation;Aula;Am. J. Hum. Genet.,2000

3. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease;Biancheri;Neurogenetics,2005

4. Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero;Froissart;J. Med. Genet.,2005

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3. The molecular mechanism of sialic acid transport mediated by Sialin;Science Advances;2023-01-20

4. Free sialic acid storage disorder: Progress and promise;Neuroscience Letters;2021-06

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