Evidence map›Paper›PMID 28089251›Full record

ArticleAmerican journal of human genetics2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun and 26 more

Erratum issuedOpen access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.

  1. Beyond the Kidney: A Systematic Review of Extrarenal Manifestations inInternational journal of molecular sciences · 2026
    Pooled it
  2. Review
  3. A Rare Genetic Association of anJournal of medical cases · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Nephronophthisis: a pathological and genetic perspective.Pediatric nephrology (Berlin, Germany) · 2024
    Review
  9. Review
  10. Review
  11. TOPORS as a novel causal gene for Joubert syndrome.American journal of medical genetics. Part A · 2023
    Article
  12. Article
  13. Review
  14. The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022
    Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021
    Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors at 9 institutions in 7 countries.

Maxence S MaciaINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Jan HalbritterDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Internal Medicine, University Clinic Leipzig, 04103 Leipzig, Germany.
Marion DelousINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Cecilie BredrupDepartment of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway.
Arthur GutterINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Emilie FilholINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Anne E C MellgrenDepartment of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway.
Sabine LehDepartment of Clinical Medicine, University of Bergen, 5021 Bergen, Norway; Department of Pathology, Haukeland University Hospital, 5021 Bergen, Norway.
Albane BizetINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Daniela A BraunDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Heon Y GeeDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Flora SilbermannINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Charline HenryINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Pauline KrugINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Pediatric Nephrology Department, Necker-Enfants Malades Hospital, 75015 Paris, France.
Christine Bole-FeysotParis Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Inserm UMR-1163, Genomic Core Facility, 75015 Paris, France.
Patrick NitschkéParis Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Bioinformatics Core Facility, 75015 Paris, France.
Dominique JolyNephrology Department, Necker -Enfants Malades Hospital, 75015 Paris, France.
Philippe NicoudHemodialysis-Nephrology Department, Mont-Blanc Hospitals, 74700 Sallanches, France.
André PagetHemodialysis-Nephrology Department, Mont-Blanc Hospitals, 74700 Sallanches, France.
Heidi HauglandDepartment of Ophthalmology, Førde Central Hospital, 6812 Førde, Norway.
Damien BrackmannDepartment of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway.
Nayir AhmetUniversity of Istanbul, 34452 Istanbul, Turkey.
Richard SandfordAcademic Department of Medical Genetics, University of Cambridge, CB2 0QQ Cambridge, UK.
Nurcan CengizBaskent University, 06810 Ankara, Turkey.
Per M KnappskogCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
Helge BomanCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway.
Bolan LinghuNovartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
Fan YangNovartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
Edward J OakeleyNovartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
Pierre Saint MézardNovartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
Andreas W SailerNovartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
Stefan JohanssonCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
Eyvind RødahlDepartment of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway.
Sophie SaunierINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France. Electronic address: sophie.saunier@inserm.fr.
Friedhelm HildebrandtDivision of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Alexandre BenmerahINSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Délégation Paris 5 · FRHaukeland University Hospital · NOBoston Children's Hospital · USNovartis (Switzerland) · CHNovartis (United States) · USBaşkent University · TRHelse Førde · NOIstanbul University · TRUniversity of Cambridge · GB

Funding

Novel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6M
NIDDK NIH HHS R01 DK068306
6 · The paper itself

Abstract

Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions. Instead, MAPKBP1 is recruited to mitotic spindle poles (MSPs) during the early phases of mitosis where it colocalizes with its paralog WDR62, which plays a key role at MSP. Detected mutations compromise recruitment of MAPKBP1 to the MSP and/or its interaction with JNK2 or WDR62. Additionally, we show increased DNA damage response signaling in fibroblasts from affected individuals and upon knockdown of Mapkbp1 in murine cell lines, a phenotype previously associated with NPH. In conclusion, we identified mutations in MAPKBP1 as a genetic cause of juvenile or late-onset and cilia-independent NPH.

Indexed as

AdolescentAllelesAnimalsCell Cycle ProteinsChildCiliaDisease Models, AnimalDNA DamageFibroblastsFibrosisGene Expression RegulationHumansIntracellular Signaling Peptides and ProteinsKidneyKidney Diseases, CysticKidney Failure, ChronicCell Cycle ProteinsIntracellular Signaling Peptides and ProteinsMAPKBP1 protein, humanMapkbp1 protein, mouseNerve Tissue ProteinsWDR62 protein, humanciliopathydigenismDNA damagekidneyMAPKBP1MAP kinasemitotic spindlenephronophthisisretinitis pigmentosaWDR62

Identifiers

PMID28089251
PMCPMC5294754
OpenAlexW2578323570

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.