Ikonen, Elina

Functional rafts in cell membranes

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

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The impact of low-frequency and rare variants on lipid levels

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Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

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Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells

Sandhu, J., Li, S., Fairall, L., Pfisterer, S. G., Gurnett, J. E., Xiao, X., Weston, T. A., Vashi, D., Ferrari, A., Orozco, J. L., et al. (2018) · Cell

Cholesterol and Lipid MetabolismCellular transport and secretion

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Mechanisms for cellular cholesterol transport: Defects and human disease

Ikonen, E. (2006) · Physiological Reviews

Cholesterol and Lipid MetabolismLipid Membrane Structure and Behavior

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NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation

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Cellular transport and secretionCholesterol and Lipid Metabolism

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The CCHCR1 (HCR) gene is relevant for skin steroidogenesis and downregulated in cultured psoriatic keratinocytes

Tiala, I., Suomela, S., Huuhtanen, J., Wakkinen, J., Hölttä-Vuori, M., Kainu, K., Ranta, S., Turpeinen, U., Hämäläinen, E., Jiao, H., et al. (2007) · Journal of Molecular Medicine

Psoriasis: Treatment and PathogenesisDermatology and Skin Diseases

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Secretion of Sterols and the NPC2 Protein from Primary Astrocytes

Mutka, A.-L., Lusa, S., Linder, M. D., Jokitalo, E., Kopra, O., Jauhiainen, M., & Ikonen, E. (2004) · Journal of Biological Chemistry

Cholesterol and Lipid MetabolismLysosomal Storage Disorders Research

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ATPase activity of DFCP1 controls selective autophagy

Nähse, V., Raiborg, C., Tan, K. W., Mørk, S., Torgersen, M., Wenzel, E., Nager, M., Salo, V., Johansen, T., Ikonen, E., et al. (2022) · Nature Communications

Autophagy in Disease and TherapyCellular transport and secretion

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ATPase activity of DFCP1 controls selective autophagy

Nähse, V., Raiborg, C., Tan, K. W., Mørk, S., Torgersen, M. L., Wenzel, E. M., Nager, M., Salo, V. T., Johansen, T., Ikonen, E., et al. (2023) · Nature Communications

Autophagy in Disease and TherapyCellular transport and secretion

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What dictates the accumulation of desmosterol in the developing brain?

Jansen, M., Wang, W., Greco, D., Bellenchi, G. C., di Porzio, U., Brown, A. J., & Ikonen, E. (2013) · The FASEB Journal

Cholesterol and Lipid MetabolismLipid Membrane Structure and Behavior

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Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain

Mutka, A., Haapanen, A., Käkelä, R., Lindfors, M., Wright, A. K., Inkinen, T., Hermansson, M., Rokka, A., Corthals, G., Jauhiainen, M., et al. (2010) · Journal of Neurochemistry

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

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Control of Golgi- V-ATPase through Sac1-dependent co-regulation of PI(4)P and cholesterol

Zhou, X., van der Stoel, M. M., Kaptan, S., Li, H., Li, S., Hölttä, M., Vihinen, H., Jokitalo, E., Thiele, C., Pietiläinen, O., et al. (2025) · Nature Communications

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Control of Golgi- V-ATPase through Sac1-dependent co-regulation of PI(4)P and cholesterol

Zhou, X., van der Stoel, M. M., Kaptan, S., Li, H., Li, S., Hölttä, M., Vihinen, H., Jokitalo, E., Thiele, C., Pietiläinen, O., et al. (2024) · Nature Communications

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