Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS Prof Roberto Giugliani, MD, Filippo Vairo, MD, Francyne Kubaski,

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Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS Prof Roberto Giugliani, MD, Filippo Vairo, MD, Francyne Kubaski, PhD, Fabiano Poswar, MD, Mariluce Riegel, PhD, Guilherme Baldo, PhD, Jonas Alex Saute, MD The Lancet Child & Adolescent Health Volume 2, Issue 1, Pages 56-68 (January 2018) DOI: 10.1016/S2352-4642(17)30087-1 Copyright © 2018 Elsevier Ltd Terms and Conditions

Figure 1 Strategies to enable therapeutic enzymes to penetrate or bypass the blood–brain barrier Tight junctions prevent the crossing of lysosomal enzymes between endothelial cells (A). Direct infusion into the cerebrospinal fluid through different routes is used to bypass the blood–brain barrier (B). A larger amount of the enzyme might cross the blood–brain barrier when higher doses are used or peripheral clearance is decreased (C). Fusion proteins can cross the blood–brain barrier through receptor-mediated transcytosis (D). Nanoparticles could aid the enzyme to cross the blood–brain barrier through different mechanisms, including transcytosis (E). The Lancet Child & Adolescent Health 2018 2, 56-68DOI: (10.1016/S2352-4642(17)30087-1) Copyright © 2018 Elsevier Ltd Terms and Conditions

Figure 2 Schematic overview of mechanisms of small molecules for the treatment of lysosomal disorders Examples of drugs are given for each mechanism. The Lancet Child & Adolescent Health 2018 2, 56-68DOI: (10.1016/S2352-4642(17)30087-1) Copyright © 2018 Elsevier Ltd Terms and Conditions