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The following publications received financial support from the University Research Priority Program of the University of Zurich (URPP) ITINERARE – Innovative Therapies in Rare Diseases.
Berber M, Leng S, Wengi A, Winter DV, Odermatt A, Beuschlein F, Loffing J, Breault DT, Penton D (2023) Calcineurin regulates aldosterone production via dephosphorylation of NFATc4 JCI Insight
| Borreguero CF, Wueest S, Hantel C, Schneider, H, Konrad D, Beuschlein F, Spyroglou A (2023) Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice Int J Obes 47, pages215–223. |
| Forny P, Bonilla X, Lamparter D, Shao W, Plessl T , Frei C, Bingisser A , Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C , Poms M , Traversi F , Bürer C , Cherkaoui S, Morscher RJ , Simmons L, Forny M , Xenarios I, Aebersold R , Zamboni N, Rätsch G, Dermitzakis ET , Wollscheid B, Baumgartner MR, Froese DS (2023) Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency Nature Metabolism volume 5, pages80–95 |
Wehrli S, Rohrbach M, Landolt MA (2023) Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta‑analysisOrphanet Journal of Rare Diseases 18:123
Berquez M, Chen Z, Festa BP, Krohn P, Keller SA, Parolo S, Laczko E, Domenici E, Devuyst O, Luciani A (2022) Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specializationbioRxiv 08.28.505580.
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Berquez M, Devuyst O (2022).Tubular cell plasticity—new hope for autosomal dominant polycystic kidney disease? Kidney Int, 102: 6-8. |
| Boeck D*, Rothgangl T*, Villiger L*, Schmidheini L, Matsushita M, Mathis N, Ioannidi N, Rimann N, Grisch-Chan HM, Kreutzer S, Kontarakis Z, Kopf M, Thöny B, Schwank G (2022) In vivo prime editing of a metabolic liver disease in mice Sci Transl Med. 14(636): eabl9238. |
| Bösch F, Zeltner NA, Baumgartner MR , Huemer M, Landolt MA (2022). Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus. Orphanet J Rare Dis, 17:26. |
| Bösch F, Landolt MA, Baumgartner MR, Fernandez S, Forny P, Gautschi M, Grünert SC, Häberle J, Horvath C, Karall D, Lampis D, Rohrbach M, Scholl-Bürgi S, Szinnai G, Huemer M (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Mol Genet Metab Rep, 31:100876. |
| Devuyst O, Bochud M, Olinger E (2022). UMOD and the architecture of kidney disease. Pflügers Archiv, 474:771-781. |
| Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR (2022). Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Hum Genet, 141: 1253-1267. |
| Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi T, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Raetsch G, Dermitzakis E, Wollscheid B, Baumgartner MR, Froese DS (2022) Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency. medRxiv 2022.01.27.22269972. |
| Joseph CB, Mariniello M, Yoshifuji A, Schiano G, Lake J, Marten J, Richmond A, Huffman JE, Campbell A, Harris SE, Troyanov S, Cocca M, Robino A, Thériault S, Eckardt K-U, Wuttke M, Cheng Y, Corre T, Kolcic I, Black C, Bruat V, Concas MP, Sala C, Aeschbacher S, Schaefer F, Bergmann S, Campbell H, Olden M, Polasek O, Porteous DJ, Deary IJ, Madore F, Awadalla P, Girotto G, Ulivi S, Conen D, Wuehl E, Olinger E, Wilson JF, Bochud M, Köttgen A, Hayward C, Devuyst O (2022). Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. JASN 33(3): 511-529. |
| Kiessling E, Peters F, Ebner LJA, Merolla L, Samardzija, M, Baumgartner MR, Grimm C, Froese DS (2022). HIF1 and DROSHA are involved in MMACHC repression in hypoxia.Biochim Biophys Acta Gen Subj, 1866(9):130175. |
| Krohn P, Rega LR, Harvent M, Festa BP, Taranta A, Luciani A, Dewulf J, Cremonesi A, Camassei FD, Hanson JVM, Gerth-Kahlert C, Emma F, Berquez M, Devuyst O (2022) Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Hum Mol Genet, 31(13): 2262-2278. |
| Olinger E, Wilson I, Devuyst O, Sayer JA (2022). Kidney traits on repeat - the role of MUC1 VNTR. Kidney Int, 101: 863-866. |
| Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O (2022) An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proc Natl Acad Sci USA 16;119(33): e2114734119. |
| Rega LR, De Leo E, Nieri D, Luciani A (2022). Defective Cystinosin, Aberrant Autophagy−Endolysosome Pathways, and Storage Disease: Towards Assembling the Puzzle. Cells, 11(3): 326. |
| Ramon C, Traversi F, Bürer C, Froese DS, Stelling J (2022).Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria. J Inherit Metab Dis. Online ahead of print. |
| Schiano G, Lake J, Mariniello M, Schaeffer C, Harvent M, Luca Rampoldi, Olinger E, Devuyst O (2022) Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney DiseasebioRxiv 2022.09.13.507770. |
Tag B, Hiltbrunner S, Vatter L (2022) “Seltene Krankheiten – eine rechtliche und ethische Einordnung” in Commemorative Publication «Cimes et Châtiments, Mélanges en l’honneur du Prof. Laurent Moreillon»
| Berquez M, Krohn P, Luciani A, Devuyst O (2021). Receptor-Mediated Endocytosis and Differentiation in Proximal Tubule Cell Systems. JASN, 32(5): 1265-1267. |
| Devuyst O (2021). Assessing transport across the peritoneal membrane: Precision medicine in dialysis. Perit Dial Int, 41(4): 349-351. |
| Emma F, Hoff WV, Hohenfellner K, Topaloglu R, Greco M, Ariceta G, Bettini C, Bockenhauer D, Veys K, Pape L, Hulton S, Collin S, Ozaltin F, Servais A, Deschênes G, Novo R, Bertholet-Thomas A, Oh J, Cornelissen E, Janssen M, Haffner D, Ravà L, Antignac C, Devuyst O, Niaudet P, Levtchenko E (2021) An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int, 100(5): 1112-1123. |
| Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis, 44(3): 566-592. |
| Gailly P, Devuyst O (2021). PIEZO2, a mechanosensor in the urinary bladder. Kidney Int, 100(1): 9-11. |
| Kiessling E, Nötzli S, Todorova V, Forny M, Baumgartner MR, Samardzija M, Krijt J, Kožich V, Grimm C, Froese DS (2021). Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. Biochim Biophys Acta Mol Basis Dis, 1867(10): 166201. |
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Luciani A, Denley MCS, Govers LP, Sorrentino V, Froese DS (2021). Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.Cell Mol Life Sci, 78: 6851-6867. |
| Morelle J, Marechal C, Yu Z, Debaix H, Corre T, Lambie M, Verduijn M, Dekker F, Bovy P, Evenepoel P, Bammens B, Selgas R, Bajo MA, Coester AM, Sow A, Hautem N, Struijk DG, Krediet RT, Balligand JL, Goffin E, Crott R, Ripoche P, Davies S, Devuyst O (2021). AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis. N Engl J Med, 385: 1570-1580. |
| Ponte B, Sadler MC, Olinger E, Vollenweider P, Bochud M, Padmanabhan S, Hayward C, Kutalik Z, Devuyst O (2021). Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease. Kidney Int, 100(6): 1282-1291. |
| Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M (2021). Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. J Am Soc Nephrol, 32(6): 1498-1512. |
| Zimmermann BM, Eichinger J, Baumgartner MR (2021). A systematic review of moral reasons on orphan drug reimbursement. Orphanet J Rare Dis, 16(1): 292. |
