Beyond the tubule:pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Autor: Weizhen Tan, Francesco Emma, Tina Storm, Carina Frykholm, Shrikant Mane, Tarak Srivastava, Sejin Nam, Lisa A. Teot, Friedhelm Hildebrandt, Kevin M. Bennett, Jennifer R. Charlton, François Jouret, Aleksandra Cwiek, Seymour Rosen, Lisbeth Tranebjærg, Rikke Nielsen, Erik Ilsø Christensen, Ghaleb Daouk, João Paulo Oliveira

Publikováno v: Charlton, J R, Tan, W, Daouk, G, Teot, L, Rosen, S, Bennett, K M, Cwiek, A, Nam, S, Emma, F, Jouret, F, Oliveira, J P, Tranebjærg, L, Frykholm, C, Mane, S, Hildebrandt, F, Srivastava, T, Storm, T, Christensen, E I & Nielsen, R 2020, ' Beyond the tubule : pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease ', American journal of physiology. Renal physiology, vol. 319, no. 6, pp. F988-F999 . https://doi.org/10.1152/ajprenal.00295.2020

Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. Because of the rarity of the syndrome, the long-term consequence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4876af5172ff2e902f3b8dfff44775e0
https://pure.au.dk/portal/da/publications/beyond-the-tubule(09281d1c-d21e-430f-99d7-b2e71eed7af7).html

Membrane trafficking in the retinal pigment epithelium at a glance

Autor: Tina Storm, Clare E. Futter, Thomas Burgoyne

Publikováno v: Journal of Cell Science. 133

The retinal pigment epithelium (RPE) is a highly specialised pigmented monolayer sandwiched between the choroid and the photoreceptors in the retina. Key functions of the RPE include transport of nutrients to the neural retina, removal of waste produ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b0b3f8bf7a3a4d4f1f85a17ffb02af
https://doi.org/10.1242/jcs.238279

Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome

Autor: Julia, Flemming, Maike, Marczenke, Ina-Maria, Rudolph, Rikke, Nielsen, Tina, Storm, Ilsoe Christensen, Erik, Sebastian, Diecke, Francesco, Emma, Thomas E, Willnow

Publikováno v: Flemming, J, Marczenke, M, Rudolph, I M, Nielsen, R, Storm, T, Christensen, E I, Diecke, S, Emma, F & Willnow, T E 2020, ' Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome ', Kidney International, vol. 98, no. 1, pp. 159-167 . https://doi.org/10.1016/j.kint.2020.02.021
Kidney International

Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d2bf201bb479df0e4ea0ede51d85e907
https://pure.au.dk/ws/files/220252028/1_s2.0_S0085253820302635_main.pdf

Megalin Is Predominantly Observed in Vesicular Structures in First and Third Trimester Cytotrophoblasts of the Human Placenta

Autor: Agnete Larsen, Julie Nelly Christensen, Tine Kjærgaard, Niels Uldbjerg, Erik Ilsø Christensen, Mette Madsen, Bent Honoré, Tina Storm

Publikováno v: Aarhus University

The membrane receptor megalin is crucial for normal fetal development. Besides its expression in the developing fetus, megalin is also expressed in the human placenta. Similar to its established function in the kidney proximal tubules, placental mega

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c82a0111c540bd01646a8dd6d01aede4
https://doi.org/10.1369/0022155416672210

Suppression of choroidal neovascularization in mice by subretinal delivery of multigenic lentiviral vectors encoding anti-angiogenic microRNAs

Autor: Anne Louise Askou, Josephine Natalia Esther Benckendorff, Andreas Holmgaard, Tina Storm, Lars Aagaard, Toke Bek, Jacob Giehm Mikkelsen, Thomas Juhl Corydon

Publikováno v: Human Gene Therapy Methods.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::60a3a782180c6f84cab24a9f94932449
https://doi.org/10.1089/hum.2017.079