Page 113 - Read Online
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Dewsbury et al. J Transl Genet Genom 2024;8:85-101  https://dx.doi.org/10.20517/jtgg.2023.58   Page 99

               62.       Sun X, Marks DL, Park WD, et al. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with
                    mutations within a specific domain of NPC1. Am J Hum Genet 2001;68:1361-72.  DOI  PubMed  PMC
                                                 2+
               63.       Lloyd-Evans E, Platt FM. Lysosomal Ca  homeostasis: role in pathogenesis of lysosomal storage diseases. Cell Calcium
                    2011;50:200-5.  DOI  PubMed
               64.       Potter GB, Petryniak MA. Neuroimmune mechanisms in Krabbe’s disease. J Neurosci Res 2016;94:1341-8.  DOI  PubMed  PMC
               65.       Fiorenza MT, Moro E, Erickson RP. The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to
                    abnormal development and neuroinflammation. Hum Mol Genet 2018;27:R119-29.  DOI  PubMed
               66.       Cougnoux A, Drummond RA, Fellmeth M, et al. Unique molecular signature in mucolipidosis type IV microglia. J Neuroinflamm
                    2019;16:276.  DOI  PubMed  PMC
               67.       Schedin S, Sindelar PJ, Pentchev P, Brunk U, Dallner G. Peroxisomal impairment in Niemann-Pick type C disease. J Biol Chem
                    1997;272:6245-51.  DOI  PubMed
               68.       Kennedy BE, LeBlanc VG, Mailman TM, et al. Pre-symptomatic activation of antioxidant responses and alterations in glucose and
                    pyruvate metabolism in Niemann-Pick type C1-deficient murine brain. PLoS ONE 2013;8:e82685.  DOI  PubMed  PMC
               69.       Osellame LD, Rahim AA, Hargreaves IP, et al. Mitochondria and quality control defects in amouse model of Gaucher disease-links to
                    Parkinson’s disease. Cell Metab 2013;17:941-53.  DOI  PubMed  PMC
               70.       Dasgupta N, Xu YH, Li R, et al. Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and
                    effects of pharmacologic chaperone treatment in a mouse model. Hum Mol Genet 2015;24:7031-48.  DOI  PubMed  PMC
               71.       Xu YH, Xu K, Sun Y, et al. Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum Mol Genet
                    2014;23:3943-57.  DOI  PubMed  PMC
               72.       Tullo MG, Cerulli Irelli E, Caramia F, et al. The spectrum of neurological and sensory abnormalities in Gaucher disease patients: a
                    multidisciplinary study (SENOPRO). Int J Mol Sci 2023;24:8844.  DOI  PubMed  PMC
               73.       Kartha RV, Terluk MR, Brown R, et al. Patients with Gaucher disease display systemic oxidative stress dependent on therapy status.
                    Mol Genet Metab Rep 2020;25:100667.  DOI  PubMed  PMC
               74.       Zhang Z, Wang X, Lin Y, Pan D. A multifaceted evaluation of microgliosis and differential cellular dysregulation of mammalian
                    target of rapamycin signaling in neuronopathic Gaucher disease. Front Mol Neurosci 2022;15:944883.  DOI  PubMed  PMC
               75.       Yañez MJ, Campos F, Marín T, et al. c-Abl activates RIPK3 signaling in Gaucher disease. Biochim Biophys Acta Mol Basis Dis
                    2021;1867:166089.  DOI
               76.       Shimizu T, Schutt CR, Izumi Y, et al. Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that
                    exacerbates Gaucher disease. Immunity 2023;56:307-19.e8.  DOI
               77.       Srikanth MP, Feldman RA. Elevated Dkk1 mediates downregulation of the canonical Wnt pathway and lysosomal loss in an iPSC
                    model of neuronopathic Gaucher disease. Biomolecules 2020;10:1630.  DOI  PubMed  PMC
               78.       Baden P, Perez MJ, Raji H, et al. Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy
                    metabolism. Nat Commun 2023;14:1930.  DOI  PubMed  PMC
               79.       Teixeira CA, Miranda CO, Sousa VF, et al. Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and
                    decreased microtubule stability occur in the model of Krabbe’s disease. Neurobiol Dis 2014;66:92-103.  DOI  PubMed  PMC
               80.       Singh I, Singh AK, Contreras MA. Peroxisomal dysfunction in inflammatory childhood white matter disorders: an unexpected
                    contributor to neuropathology. J Child Neurol 2009;24:1147-57.  DOI  PubMed  PMC
               81.       Haq E, Contreras MA, Giri S, Singh I, Singh AK. Dysfunction of peroxisomes in twitcher mice brain: a possible mechanism of
                    psychosine-induced disease. Biochem Biophys Res Commun 2006;343:229-38.  DOI
               82.       Voccoli V, Tonazzini I, Signore G, Caleo M, Cecchini M. Role of extracellular calcium and mitochondrial oxygen species in
                    psychosine-induced oligodendrocyte cell death. Cell Death Dis 2014;5:e1529.  DOI  PubMed  PMC
               83.       Wu L, Liao X, Yang S, Gan S. Krabbe disease associated with mitochondrial dysfunction in a chinese family. Front Neurol
                    2021;12:750095.  DOI  PubMed  PMC
               84.       Kreher C, Favret J, Weinstock NI, et al. Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in
                    neurodegeneration. PLoS Biol 2022;20:e3001661.  DOI  PubMed  PMC
               85.       Hatton C, Ghanem SS, Koss DJ, et al; International DLB Genetics Consortium. Prion-like α-synuclein pathology in the brain of
                    infants with Krabbe disease. Brain 2022;145:1257-63.  DOI
               86.       Karabelas AB, Walkley SU. Altered patterns of evoked synaptic activity in cortical pyramidal neurons in feline ganglioside storage
                    disease. Brain Res 1985;339:329-36.  DOI  PubMed
               87.       Purpura DP, Highstein SM, Karabelas AB, Walkley SU. Intracellular recording and HRP-staining of cortical neurons in feline
                    ganglioside storage disease. Brain Res 1980;181:446-9.  DOI  PubMed
               88.       Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Biomarkers of central nervous system inflammation in infantile and juvenile
                    gangliosidoses. Mol Genet Metab 2015;114:274-80.  DOI  PubMed  PMC
               89.       Sano R, Annunziata I, Patterson A, et al. GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER
                           2+
                    stress to Ca -dependent mitochondrial apoptosis. Mol Cell 2009;36:500-11.  DOI  PubMed  PMC
               90.       Takamura A, Higaki K, Kajimaki K, et al. Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis.
                    Biochem Biophys Res Commun 2008;367:616-22.  DOI
               91.       Liu S, Feng Y, Huang Y, et al. A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy. Exp
                    Biol Med 2021;246:1330-41.  DOI  PubMed  PMC
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