Mechanisms of Intracellular Membrane Trafficking

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Park, M., Nam, J. S., Kim, T., Yoon, G., Kim, S., Lee, C., Lee, C. G., Park, S., Bejoymohandas, K. S., Yang, J., Kwon, Y. H., Lee, Y. J., Seo, J. K., Min, D., Park, T., & Kwon, T. (2024). Rational Design of Biocompatible Ir(III) Photosensitizer to Overcome Drug‐Resistant Cancer via Oxidative Autophagy Inhibition. Advanced Science. Portico. https://doi.org/10.1002/advs.202407236
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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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Zhao, X., Quintremil, S., Rodriguez Castro, E. D., Cui, H., Moraga, D., Wang, T., Vallee, R. B., & Solmaz, S. R. (2024). Molecular mechanism for recognition of the cargo adapter Rab6GTPby the dynein adapter BicD2. Life Science Alliance, 7(7), e202302430. https://doi.org/10.26508/lsa.202302430
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Oevel, K., Hohensee, S., Kumar, A., Rosas-Brugada, I., Bartolini, F., Soykan, T., & Haucke, V. (2024). Rho GTPase signaling and mDia facilitate endocytosis via presynaptic actin. ELife, 12. CLOCKSS. https://doi.org/10.7554/elife.92755.3
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Herman, M., Randall, G. W., Spiegel, J. L., Maldonado, D. J., & Simoes, S. (2024). Endo-lysosomal dysfunction in neurodegenerative diseases: opinion on current progress and future direction in the use of exosomes as biomarkers. Philosophical Transactions of the Royal Society B: Biological Sciences, 379(1899). https://doi.org/10.1098/rstb.2022.0387
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Levy, A. M., Ganapathi, M., Chung, W. K., & Tümer, Z. (2023). A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy. Clinical Genetics, 105(1), 77–80. Portico. https://doi.org/10.1111/cge.14411
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Cornelis, S. S., Bauwens, M., Haer-Wigman, L., De Bruyne, M., Pantrangi, M., De Baere, E., Hufnagel, R. B., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework. Human Mutation, 2023, 1–12. https://doi.org/10.1155/2023/6815504
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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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Leeuw, S. M., Putter, J., van der Kant, R., & Nuriel, T. (2023). Elucidating APOE4‐dependent cholesterol dysregulation in endolysosomes related to Alzheimer’s disease biology. Alzheimer’s & Dementia, 19(S13). Portico. https://doi.org/10.1002/alz.079909
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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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Lin, T.-Y., Wu, P.-L., Kang, E. Y.-C., Chi, Y.-C., Jenny, L. A., Lin, P.-H., Lee, C.-Y., Liu, C.-H., Liu, L., Yeh, L.-K., Chen, K.-J., Hwang, Y.-S., Wu, W.-C., Lai, C.-C., Hsiao, M.-C., Liu, P.-K., & Wang, N.-K. (2023). Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders. Investigative Opthalmology & Visual Science, 64(14), 25. https://doi.org/10.1167/iovs.64.14.25
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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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Hirsch, Y., Chung, W. K., Novoselov, S., Weimer, L. H., Rossor, A., LeDuc, C. A., McPartland, A. J., Cabrera, E., Ekstein, J., Scher, S., Nelson, R. F., Schiavo, G., Henderson, L. B., & Booth, K. T. A. (2023). Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International Journal of Molecular Sciences, 24(10), 8897. https://doi.org/10.3390/ijms24108897
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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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Jayaraman, S., Alacay, T.-L., Rivero Morfin, P. J. del, Lauris Kochiss, A., & Ben-Johny, M. (2023). FacePalm: Probing dynamic S-palmitoylation of CaV channel complexes using engineered depalmitoylases. Biophysical Journal, 122(3), 310a. https://doi.org/10.1016/j.bpj.2022.11.1744
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He, H., Ahsan, A., Bera, R., McLain, N., Faulkner, R., Ramachandran, K. V., Margolis, S. S., & Cline, H. T. (2023). Neuronal membrane proteasomes regulate neuronal circuit activity in vivo and are required for learning-induced behavioral plasticity. Proceedings of the National Academy of Sciences, 120(3). https://doi.org/10.1073/pnas.2216537120
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Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., … Millard, T. H. (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain, 145(12), 4232–4245. https://doi.org/10.1093/brain/awac049
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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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El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A., Kim, H. M., Wessels, M., … Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31566-z
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Chen, N., Lee, H., Kim, A. H., Liu, P.-K., Kang, E. Y.-C., Tseng, Y.-J., Seo, G. H., Khang, R., Liu, L., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2022). Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02659-6
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Oh, J. K., Vargas Del Valle, J. G., Lima de Carvalho, J. R., Sun, Y. J., Levi, S. R., Ryu, J., Yang, J., Nagasaki, T., Emanuelli, A., Rasool, N., Allikmets, R., Sparrow, J. R., Izquierdo, N. J., Duncan, J. L., Mahajan, V. B., & Tsang, S. H. (2022). Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02295-9
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Birdsall, V., Kirwan, K., Zhu, M., Imoto, Y., Wilson, S. M., Watanabe, S., & Waites, C. L. (2022). Axonal transport of Hrs is activity dependent and facilitates synaptic vesicle protein degradation. Life Science Alliance, 5(10), e202000745. https://doi.org/10.26508/lsa.202000745
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Wu, X., Sosunov, A. A., Lado, W., Teoh, J. J., Ham, A., Li, H., Al-Dalahmah, O., Gill, B. J. A., Arancio, O., Schevon, C. A., Frankel, W. N., McKhann, G. M., Sulzer, D., Goldman, J. E., & Tang, G. (2022). Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex. Cell Reports, 40(3), 111085. https://doi.org/10.1016/j.celrep.2022.111085
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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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Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K., & Bellen, H. J. (2022). Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. The American Journal of Human Genetics, 109(4), 571–586. https://doi.org/10.1016/j.ajhg.2022.01.020
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Xu, S., Sergeeva, A. P., Katsamba, P. S., Mannepalli, S., Bahna, F., Bimela, J., Zipursky, S. L., Shapiro, L., Honig, B., & Zinn, K. (2022). Affinity requirements for control of synaptic targeting and neuronal cell survival by heterophilic IgSF cell adhesion molecules. Cell Reports, 39(1), 110618. https://doi.org/10.1016/j.celrep.2022.110618
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Iannello, G., Patel, A., Sirabella, D., Corneo, B., & Thaker, V. V. (2022). Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL. Stem Cell Research, 59, 102635. https://doi.org/10.1016/j.scr.2021.102635
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Zhuravleva, V., Vaz-Silva, J., Zhu, M., Gomes, P., Silva, J. M., Sousa, N., Sotiropoulos, I., & Waites, C. L. (2021). Rab35 and glucocorticoids regulate APP and BACE1 trafficking to modulate Aβ production. Cell Death & Disease, 12(12). https://doi.org/10.1038/s41419-021-04433-w
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