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Scopus Author ID: 24759287100

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Employment (3)

Ospedale San Raffaele: Milano, Lombardia, IT

2006-01-01 to present | Post doc (Division of Genetics and Cell Biology)
Employment
Source: Self-asserted source
Céline SCHAEFFER

Universite de Geneve: Geneva, GE, CH

2004-01-01 to 2005-12-31 | Post doc (Centre Medical Universitaire)
Employment
Source: Self-asserted source
Céline SCHAEFFER

Universite de Strasbourg (Louis Pasteur University): Strasbourg, Alsace, FR

1999-09-01 to 2003-12-31 | PhD Student (UPR 9002-CNRS Structure and function of RNA (Architecture et Reactivite de l'ARN))
Employment
Source: Self-asserted source
Céline SCHAEFFER

Education and qualifications (1)

Universite de Strasbourg : Strasbourg, Alsace, FR

1999-09-01 to 2003-11-23 | PhD in Molecular and Cellular Biology (UPR 9002-CNRS Structure and function of RNA (Architecture et Reactivite de l'ARN))
Education
Source: Self-asserted source
Céline SCHAEFFER

Works (29)

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

EMBO Molecular Medicine
2023-12-07 | Journal article
DOI: 10.15252/emmm.202318242
Contributors: Guglielmo Schiano; Jennifer Lake; Marta Mariniello; Céline Schaeffer; Marianne Harvent; Luca Rampoldi; Eric Olinger; Olivier Devuyst
Source: check_circle
Crossref

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease

Disease Models & Mechanisms
2023-06-01 | Journal article
DOI: 10.1242/dmm.049963
Contributors: Céline Schaeffer; Maurizio De Fusco; Elena Pasqualetto; Caterina Scolari; Claudia Izzi; Francesco Scolari; Luca Rampoldi
Source: check_circle
Crossref

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease

2022-09-15 | Preprint
DOI: 10.1101/2022.09.13.507770
Contributors: Guglielmo Schiano; Jennifer Lake; Marta Mariniello; Céline Schaeffer; Marianne Harvent; Luca Rampoldi; Eric Olinger; Olivier Devuyst
Source: check_circle
Crossref

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

Proceedings of the National Academy of Sciences
2022-08-16 | Journal article
DOI: 10.1073/pnas.2114734119
Contributors: Eric Olinger; Céline Schaeffer; Kendrah Kidd; Elhussein A. E. Elhassan; Yurong Cheng; Inès Dufour; Guglielmo Schiano; Holly Mabillard; Elena Pasqualetto; Patrick Hofmann et al.
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Crossref

Uromodulin: Roles in Health and Disease.

Annual review of physiology
2021-02-01 | Journal article
DOI: 10.1146/annurev-physiol-031620-092817
PMID: 33566673
Source: Self-asserted source
Céline SCHAEFFER

Clinical and genetic spectra of kidney disease caused by REN mutations

Kidney International
2020-12 | Journal article
DOI: 10.1016/j.kint.2020.08.013
Contributors: Céline Schaeffer; Eric Olinger
Source: check_circle
Crossref

Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer

The EMBO Journal
2020-12-15 | Journal article
DOI: 10.15252/embj.2020106807
Contributors: Alena Stsiapanava; Chenrui Xu; Martina Brunati; Sara Zamora‐Caballero; Céline Schaeffer; Marcel Bokhove; Ling Han; Hans Hebert; Marta Carroni; Shigeki Yasumasu et al.
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Crossref

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Kidney International
2020-09 | Journal article
DOI: 10.1016/j.kint.2020.04.038
Part of ISSN: 0085-2538
Source: Self-asserted source
Céline SCHAEFFER

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Kidney international reports
2020-07-03 | Journal article
DOI: 10.1016/j.ekir.2020.06.029
PMID: 32954071
PMC: PMC7486199
Source: Self-asserted source
Céline SCHAEFFER

Cryo-EM Structure of Native Human Uromodulin, a Zona Pellucida Module Polymer

2020-05-28 | Preprint
DOI: 10.1101/2020.05.28.119206
Contributors: Alena Stsiapanava; Chenrui Xu; Martina Brunati; Sara Zamora-Caballero; Céline Schaeffer; Ling Han; Marta Carroni; Shigeki Yasumasu; Luca Rampoldi; Bin Wu et al.
Source: check_circle
Crossref

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Scientific Reports
2019 | Journal article
DOI: 10.1038/s41598-019-48014-6
EID:

2-s2.0-85070723222
Contributors: Schaeffer, C.; Izzi, C.; Vettori, A.; Pasqualetto, E.; Cittaro, D.; Lazarevic, D.; Caridi, G.; Gnutti, B.; Mazza, C.; Jovine, L. et al.
Source: Self-asserted source
Céline SCHAEFFER via Scopus - Elsevier
grade
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Regulation of IRE1 RNase activity by the Ribonuclease inhibitor 1 (RNH1)

Cell cycle (Georgetown, Tex.)
2018 | Journal article
DOI: 10.1080/15384101.2018.1506655
Source: Self-asserted source
Céline SCHAEFFER
grade
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Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

Scientific reports
2017 | Journal article
DOI: 10.1038/s41598-017-07804-6
Source: Self-asserted source
Céline SCHAEFFER
grade
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Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

PloS one
2017 | Journal article
DOI: 10.1371/journal.pone.0175970
Source: Self-asserted source
Céline SCHAEFFER
grade
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The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin.

2015 | Journal article
DOI: 10.7554/eLife.08887
PMID: 26673890
PMC: PMC4755741
Contributors: Brunati M; Perucca S; Han L; Cattaneo A; Consolato F; Andolfo A; Schaeffer C; Olinger E; Peng J; Santambrogio S et al.
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Protein trafficking defects in inherited kidney diseases.

2014-09 | Journal article
DOI: 10.1093/ndt/gfu231
PMID: 25165184
Contributors: Schaeffer C; Creatore A; Rampoldi L
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression.

2013-12 | Journal article
DOI: 10.1038/nm.3384
PMID: 24185693
PMC: PMC3856354
Contributors: Trudu M; Janas S; Lanzani C; Debaix H; Schaeffer C; Ikehata M; Citterio L; Demaretz S; Trevisani F; Ristagno G et al.
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates].

2012 | Journal article
PMID: 22538938
Contributors: Schaeffer C; Cattaneo A; Trudu M; Santambrogio S; Bernascone I; Giachino D; Caridi G; Campo A; Murtas C; Benoni S et al.
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

2012 | Journal article
DOI: 10.1371/journal.pone.0038311
PMID: 22693617
PMC: PMC3365030
Contributors: Köttgen A; Yang Q; Shimmin LC; Tin A; Schaeffer C; Coresh J; Liu X; Rampoldi L; Hwang SJ; Boerwinkle E et al.
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

2012-04 | Journal article
DOI: 10.1038/ki.2011.456
PMID: 22237754
Contributors: Schaeffer C; Cattaneo A; Trudu M; Santambrogio S; Bernascone I; Giachino D; Caridi G; Campo A; Murtas C; Benoni S et al.
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

2010-08 | Journal article
DOI: 10.1093/hmg/ddq205
PMID: 20472742
Contributors: Bernascone I; Janas S; Ikehata M; Trudu M; Corbelli A; Schaeffer C; Rastaldi MP; Devuyst O; Rampoldi L
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

2009-01 | Journal article
DOI: 10.1091/mbc.E08-08-0876
PMID: 19005207
PMC: PMC2626557
Contributors: Schaeffer C; Santambrogio S; Perucca S; Casari G; Rampoldi L
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Hepatitis B virus X protein affects S phase progression leading to chromosome segregation defects by binding to damaged DNA binding protein 1.

2008-11 | Journal article
DOI: 10.1002/hep.22542
PMID: 18781669
Contributors: Martin-Lluesma S; Schaeffer C; Robert EI; van Breugel PC; Leupin O; Hantz O; Strubin M
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.

2008-09 | Journal article
DOI: 10.1093/nar/gkn472
PMID: 18653529
PMC: PMC2528169
Contributors: Didiot MC; Tian Z; Schaeffer C; Subramanian M; Mandel JL; Moine H
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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Hepatitis B virus X protein stimulates viral genome replication via a DDB1-dependent pathway distinct from that leading to cell death.

2005-04 | Journal article
DOI: 10.1128/JVI.79.7.4238-4245.2005
PMID: 15767425
PMC: PMC1061538
Contributors: Leupin O; Bontron S; Schaeffer C; Strubin M
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

2005-03 | Journal article
DOI: 10.1093/hmg/ddi077
PMID: 15703194
Contributors: Castets M; Schaeffer C; Bechara E; Schenck A; Khandjian EW; Luche S; Moine H; Rabilloud T; Mandel JL; Bardoni B
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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The RNA binding protein FMRP: new connections and missing links.

2003 | Journal article
DOI: 10.1016/S0248-4900(03)00037-6
PMID: 12867085
Contributors: Schaeffer C; Beaulande M; Ehresmann C; Ehresmann B; Moine H
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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A single internal ribosome entry site containing a G quartet RNA structure drives fibroblast growth factor 2 gene expression at four alternative translation initiation codons.

2003-10 | Journal article
DOI: 10.1074/jbc.M305580200
PMID: 12857733
PMC: PMC2635476
Contributors: Bonnal S; Schaeffer C; Créancier L; Clamens S; Moine H; Prats AC; Vagner S
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.

2001-09 | Journal article
DOI: 10.1093/emboj/20.17.4803
PMID: 11532944
PMC: PMC125594
Contributors: Schaeffer C; Bardoni B; Mandel JL; Ehresmann B; Ehresmann C; Moine H
Source: Self-asserted source
Céline SCHAEFFER via Europe PubMed Central
grade
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