Lysosomal Storage Disorders in Human Health and Disease

Displaying 1 - 22 of 22CSV
Somerville, E. N., James, A., Beetz, C., Schwieger, R., Barrel, G., Kandaswamy, K. K., Iurascu, M. I., Bauer, P., Ta, M., Iwaki, H., Senkevich, K., Yu, E., Alcalay, R. N., & Gan‐Or, Z. (2025). Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson’s Disease Pathogenesis. Annals of Neurology. Portico. https://doi.org/10.1002/ana.27219
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Jones-Tabah, J., He, K., Karpilovsky, N., Senkevich, K., Deyab, G., Pietrantonio, I., Goiran, T., Cousineau, Y., Nikanorova, D., Goldsmith, T., del Cid Pellitero, E., Chen, C. X.-Q., Luo, W., You, Z., Abdian, N., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., … Fon, E. A. (2024). The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00779-9
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SahBandar, I. N., Maegawa, G. H. B., Brandman, D., Rand, J. H., Lim, H. I., & Geyer, J. T. (2024). A diagnosis of non‐neuronopathic and late‐onset acid sphingomyelinase deficiency (Niemann‐Pick disease A/B) following bone marrow biopsy showing foamy histiocytosis. EJHaem, 5(5), 1078–1079. Portico. https://doi.org/10.1002/jha2.1003
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Shiner, T., Kavé, G., Mirelman, A., Regev, K., Piura, Y., Goldstein, O., Gana Weisz, M., Bar‐Shira, A., Gurevich, T., Orr‐Urtreger, A., Alcalay, R. N., Giladi, N., & Bregman, N. (2024). Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies. Movement Disorders. Portico. https://doi.org/10.1002/mds.30003
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LoPiccolo, M. K., Wang, Z., Eshed, G. M., Fierro, L., Stauffer, C., Wang, K., Zhang, J., Tatsuoka, C., Balwani, M., Zou, W., & Alcalay, R. N. (2024). Skin α‐Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease. Movement Disorders. Portico. https://doi.org/10.1002/mds.29935
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Chang, S., Zhan, X., Liu, Y., Song, H., Gong, Z., Han, L., Maegawa, G. H. B., Gu, X., & Zhang, H. (2024). Newborn Screening for 6 Lysosomal Storage Disorders in China. JAMA Network Open, 7(5), e2410754. https://doi.org/10.1001/jamanetworkopen.2024.10754
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Sparks, J., Michelassi, F., Thompson, J. L. P., Buchsbaum, R., Pires, N., DeRosa, J. T., Engelstad, K., DiMauro, S., Akman, H. O., & Hirano, M. (2024). A United States-based patient-reported adult polyglucosan body disease registry: initial results. Therapeutic Advances in Rare Disease, 5. https://doi.org/10.1177/26330040241227452
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Chen, J., Cazenave-Gassiot, A., Xu, Y., Piroli, P., Hwang, R., DeFreitas, L., Chan, R. B., Di Paolo, G., Nandakumar, R., Wenk, M. R., & Marquer, C. (2023). Lysosomal phospholipase A2 contributes to the biosynthesis of the atypical late endosome lipid bis(monoacylglycero)phosphate. Communications Biology, 6(1). https://doi.org/10.1038/s42003-023-04573-z
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Westerterp, M., Li, F., & Zhang, H. (2023). Dissecting cell type–specific impact in lysosomal acid lipase deficiency–associated disorders. Journal of Lipid Research, 64(12), 100474. https://doi.org/10.1016/j.jlr.2023.100474
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Rekova, P., Dostalova, G., Rob, D., Vaneckova, M., Pavlicova, M., Linhart, A., & Kemlink, D. (2023). Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound. Journal of Ultrasound in Medicine, 42(10), 2315–2330. Portico. https://doi.org/10.1002/jum.16254
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Qi, R., Sammler, E., Gonzalez-Hunt, C. P., Barraza, I., Pena, N., Rouanet, J. P., Naaldijk, Y., Goodson, S., Fuzzati, M., Blandini, F., Erickson, K. I., Weinstein, A. M., Lutz, M. W., Kwok, J. B., Halliday, G. M., Dzamko, N., Padmanabhan, S., Alcalay, R. N., Waters, C., … Sanders, L. H. (2023). A blood-based marker of mitochondrial DNA damage in Parkinson’s disease. Science Translational Medicine, 15(711). https://doi.org/10.1126/scitranslmed.abo1557
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Chen, J., Soni, R. K., Xu, Y., Simoes, S., Liang, F.-X., DeFreitas, L., Hwang, R., Montesinos, J., Lee, J. H., Area-Gomez, E., Nandakumar, R., Vardarajan, B., & Marquer, C. (2023). Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. EBioMedicine, 92, 104628. https://doi.org/10.1016/j.ebiom.2023.104628
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Gehin, C., Lone, M. A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A. M., Gerkes, E. H., Stegmann, A. P. A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E. R., Zamuner, S., … Gennarino, V. A. (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Journal of Clinical Investigation, 133(10). https://doi.org/10.1172/jci165019
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Planas-Serra, L., Launay, N., Goicoechea, L., Heron, B., Jou, C., Juliá-Palacios, N., Ruiz, M., Fourcade, S., Casasnovas, C., De La Torre, C., Gelot, A., Marsal, M., Loza-Alvarez, P., García-Cazorla, À., Fatemi, A., Ferrer, I., Portero-Otin, M., Area-Gómez, E., & Pujol, A. (2023). Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. Journal of Clinical Investigation, 133(10). https://doi.org/10.1172/jci162957
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Blauwendraat, C., Tayebi, N., Woo, E. G., Lopez, G., Fierro, L., Toffoli, M., Limbachiya, N., Hughes, D., Pitz, V., Patel, D., Vitale, D., Koretsky, M. J., Hernandez, D., Real, R., Alcalay, R. N., Nalls, M. A., Morris, H. R., Schapira, A. H. V., Balwani, M., & Sidransky, E. (2023). Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease. Movement Disorders, 38(5), 899–903. Portico. https://doi.org/10.1002/mds.29342
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Kolesnikova, M., Lima de Carvalho, J. R., Oh, J. K., Soucy, M., Demirkol, A., Kim, A. H., Tsang, S. H., & Breazzano, M. P. (2023). Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative Opthalmology & Visual Science, 64(3), 23. https://doi.org/10.1167/iovs.64.3.23
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Kedariti, M., Frattini, E., Baden, P., Cogo, S., Civiero, L., Ziviani, E., Zilio, G., Bertoli, F., Aureli, M., Kaganovich, A., Cookson, M. R., Stefanis, L., Surface, M., Deleidi, M., Di Fonzo, A., Alcalay, R. N., Rideout, H., Greggio, E., & Plotegher, N. (2022). LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease. Npj Parkinson’s Disease, 8(1). https://doi.org/10.1038/s41531-022-00354-3
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Azab, B., Rabab’h, O., Aburizeg, D., Mohammad, H., Dardas, Z., Mustafa, L., Khasawneh, R. A., Awad, H., Hatmal, M. M., & Altamimi, E. (2022). Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn’s Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes, 13(6), 973. https://doi.org/10.3390/genes13060973
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Liaqat, K., Hussain, S., Acharya, A., Nasir, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes, 13(4), 662. https://doi.org/10.3390/genes13040662
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Dong, C., Honrao, C., Rodrigues, L. O., Wolf, J., Sheehan, K. B., Surface, M., Alcalay, R. N., & O’Day, E. M. (2022). Plasma Metabolite Signature Classifies Male LRRK2 Parkinson’s Disease Patients. Metabolites, 12(2), 149. https://doi.org/10.3390/metabo12020149
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Peterschmitt, M. J., Saiki, H., Hatano, T., Gasser, T., Isaacson, S. H., Gaemers, S. J. M., Minini, P., Saubadu, S., Sharma, J., Walbillic, S., Alcalay, R. N., Cutter, G., Hattori, N., Höglinger, G. U., Marek, K., Schapira, A. H. V., Scherzer, C. R., Simuni, T., … Fischer, T. Z. (2022). Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson’s Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial. Journal of Parkinson’s Disease, 12(2), 557–570. https://doi.org/10.3233/jpd-212714
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