Publications

The following publications received financial support from the University Research Priority Program of the University of Zurich (URPP) ITINERARE – Innovative Therapies in Rare Diseases.

2022

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.
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 (epub ahead of print).
Olinger E, Wilson I, Devuyst O, Sayer JA (2022). Kidney traits on repeat - the role of MUC1 VNTR. Kidney Int (epub ahead of print).
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.

2021

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. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int, 100(5): 1112-1123.
Forny P, Plessl T, Frei C, Bürer C, Froese DS, Baumgartner MR (2021). Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Hum Genet (epub ahead of print).
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.

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.