Lysosomal dysfunction and glycosphingolipid dysregulation in rare and common neurodegenerative diseases by Huebecker, M

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1 by Rodriguez-Gil, J, Watkins-Chow, D, Baxter, L, Huebecker, M, Platt, F

Fetal gene therapy for neurodegenerative disease of infants by Massaro, G, Mattar, C, Wong, A, Huebecker, M, Priestman, D, Platt, F, al., E

Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of mouse brain by Hallett, PJ, Huebecker, M, Brekk, ØR, Moloney, EB, Rocha, EM, Priestman, D, Platt, FM, Isacson, O

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease by Huebecker, M, Moloney, EB, van der Spoel, AC, Priestman, DA, Isacson, O, Hallett, PJ, Platt, FM

Altered expression of ganglioside metabolizing enzymes results in GM3 ganglioside accumulation in cerebellar cells of a mouse model of juvenile neuronal ceroid lipofuscinosis by Somogyi, A, Petcherski, A, Beckert, B, Huebecker, M, Priestman, D, Banning, A, Cotman, S, Platt, F, Ruonala, M, Tikkanen, R

Inhibition of β-glucocerebrosidase activity preserves motor unit integrity in a mouse model of amyotrophic lateral sclerosis by Henriques, A, Huebecker, M, Blasco, H, Keime, C, Andres, C, Corcia, P, Priestman, D, Platt, F, Spedding, M, Loeffler, J

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity by Brekk, OR, Korecka, JA, Crapart, CC, Huebecker, M, MacBain, ZK, Rosenthal, SA, Sena-Esteves, M, Priestman, D, Platt, F, Isacson, O, Hallett, PJ

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease by Hughes, MP, Smith, DA, Morris, L, Fletcher, C, Colaco, A, Huebecker, M, Tordo, J, Palomar, N, Massaro, G, Henckaerts, E, Waddington, SN, Platt, FM, Rahim, AA

N-Butyl-L-Deoxynojirimycin (L-NBDNJ): Synthesis of an allosteric enhancer of α-glucosidase activity for the treatment of Pompe disease by D'Alonzo, D, De Fenza, M, Porto, C, Iacono, R, Huebecker, M, Cobucci-Ponzano, B, Priestman, D, Platt, F, Parenti, G, Moracci, M, Palumbo, G, Guaragna, A