TY - CHAP M1 - Book, Section TI - Recent Developments in Disorders of Free Sialic Acid Storage A1 - Aula, Pertti A1 - Aula, Nina A1 - Gahl, William A. A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. PY - 2019 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - Important new data on free sialic acid storage diseases have emerged in the past few years. A number of new cases, illustrating both phenotypic variability and new mutations of the SLC17A5 (formerly AST) gene, have allowed a genotype-phenotype correlation to be drawn. Expression studies of the gene product, sialin, in somatic and neuronal cells have shed new light on the molecular mechanisms leading to central nervous system (CNS) manifestations of the disease. Recent work on an animal model for sialic acid storage disease, a sialin-deficient mouse, has revealed possible pathogenetic mechanisms behind free sialic acid storage diseases. In sialin-deficient animals, defective maturation of oligodendrocytic cells leads to apoptotic cell death and consequent decrease in myelin production in the CNS. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - ommbid.mhmedical.com/content.aspx?aid=1181474128 ER -