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Alternative metabolic pathway of glucosylceramide (GlcCer) accumulation due to glucocerebrosidase (GCase) deficiency (3)

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LIMP-2 is a lysosomal membrane protein (LMP) whose highly glycosylated intra-lysosomal part protects the lysosome’s membrane. LIMP-2 anomalies can induce a phenotype rather than GD3 (Gonzalez A, Valeiras M, Sidransky E, Tayebi N. Lysosomal integral membrane protein-2: a new player in lysosome-related pathology. Mol Genet Metab 2014;111[2]:84-91).

(Source: Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 2017;18[2]:441. Creative Commons Attribution [CC BY] License, https://creativecommons.org/licenses/by/4.0.) Figure modified by Dr. Douglas J Lanska.)