Novel Therapeutic Avenues for dynein-related Ciliopathies

Informations projet

TREATCilia

N° de convention de subvention: 716344

DOI

10.3030/716344

Projet clôturé

Date de signature de la CE 13 Janvier 2017

Date de début 1 Février 2017

Date de fin 31 Janvier 2022

Financé au titre de

• EXCELLENT SCIENCE - European Research Council (ERC)

Coût total

€ 1 499 545,00

Contribution de l’UE

€ 1 499 545,00

Coordonné par

UNIVERSITAETSKLINIKUM FREIBURG
Germany

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Publications

Peer reviewed articles (27)

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Auteurs: Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Publié dans: Diagnostics, Numéro 11/5, 2021, Page(s) 749, ISSN 2075-4418
Éditeur: MDPI
DOI: 10.3390/diagnostics11050749

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Auteurs: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Publié dans: Genes, Numéro 12/6, 2021, Page(s) 879, ISSN 2073-4425
Éditeur: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12060879

Ciliary Dyneins and Dynein Related Ciliopathies

Auteurs: Antony, Dinu; Brunner, Han G.; Schmidts, Miriam
Publié dans: Cells, 2021, ISSN 2073-4409
Éditeur: MDPI
DOI: 10.3390/cells10081885

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Auteurs: Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Ar
Publié dans: Brain, Numéro 142/10, 2019, Page(s) 2948-2964, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awz248

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

Auteurs: Reza Maroofian, Isabel Schuele, Maryam Najafi, Zeineb Bakey, Abolfazl Rad, Dinu Antony, Haleh Habibi, Miriam Schmidts
Publié dans: Kidney International Reports, Numéro 3/6, 2018, Page(s) 1454-1463, ISSN 2468-0249
Éditeur: Elsevier
DOI: 10.1016/j.ekir.2018.07.015

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Auteurs: Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona & Miriam Schmidts
Publié dans: Orphanet Journal of Rare Diseases, 2022, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-022-02244-6

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Auteurs: Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, Maryam Najafi, Dilek Uludag Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Gunes, Kaya Bilguvar, Audrey Labalme, Eudeline Alix, Damien Sanlaville, Julitta de Bellescize, Anne-Lise Poulat, Ingo H
Publié dans: Brain, Numéro 143/5, 2020, Page(s) 1447-1461, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awaa085

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Auteurs: Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G Brunner, Peter Walentek, Sebastian J Arnold, Rolf Backofen, Miriam Schmidts
Publié dans: Frontiers in Genetics, 2022, ISSN 1664-8021
Éditeur: Frontiers Media
DOI: 10.3389/fgene.2022.861236

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Auteurs: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Publié dans: Orphanet Journal of Rare Diseases, Numéro 15/1, 2020, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-020-1303-2

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Auteurs: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital
Publié dans: PLOS Genetics, Numéro 14/8, 2018, Page(s) e1007602, ISSN 1553-7404
Éditeur: PLOS
DOI: 10.1371/journal.pgen.1007602

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Auteurs: Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Publié dans: The American Journal of Human Genetics, Numéro 100/1, 2017, Page(s) 160-168, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2016.11.019

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Auteurs: Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran
Publié dans: The American Journal of Human Genetics, Numéro 102/5, 2018, Page(s) 973-984, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.03.025

CiliaCarta: An integrated and validated compendium of ciliary genes

Auteurs: Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F. Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Sla
Publié dans: PLOS ONE, Numéro 14/5, 2019, Page(s) e0216705, ISSN 1932-6203
Éditeur: Public Library of Science
DOI: 10.1371/journal.pone.0216705

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Auteurs: Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heym
Publié dans: The American Journal of Human Genetics, Numéro 103/6, 2018, Page(s) 995-1008, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.020

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Auteurs: Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith Schneider, John A. Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch
Publié dans: JCI Insight, Numéro 4/3, 2019, ISSN 2379-3708
Éditeur: American Society for Clinical Investigation
DOI: 10.1172/jci.insight.124701

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Auteurs: Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers
Publié dans: Cilia, Numéro 7/1, 2018, ISSN 2046-2530
Éditeur: BMC Springer Nature
DOI: 10.1186/s13630-018-0055-2

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Auteurs: Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al Jasmi, Martin Helmstädter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Gha
Publié dans: Human Mutation, 2018, ISSN 1059-7794
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/humu.23694

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)

Auteurs: Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
Publié dans: Journal of Medical Genetics, Numéro 56/5, 2019, Page(s) 332-339, ISSN 0022-2593
Éditeur: British Medical Association
DOI: 10.1136/jmedgenet-2018-105623

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Auteurs: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Publié dans: Orphanet Journal of Rare Diseases, Numéro 14/1, 2019, ISSN 1750-1172
Éditeur: BioMed Central
DOI: 10.1186/s13023-018-0981-5

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Auteurs: Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
Publié dans: Frontiers in Pediatrics, Numéro 7, 2019, ISSN 2296-2360
Éditeur: Frontiers
DOI: 10.3389/fped.2019.00089

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Auteurs: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani
Publié dans: BMC Medical Genetics, Numéro 19/1, 2018, ISSN 1471-2350
Éditeur: BioMed Central
DOI: 10.1186/s12881-018-0709-3

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Auteurs: Leslie E Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A Al-Muhaizea, Hamad Alzaidan, Hesham AlDhalaan, Elena Perenthaler, Herma C van der Linde, Anita Nikoncuk, Nikolas A Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arn
Publié dans: Brain, Numéro 144/3, 2021, Page(s) 769-780, ISSN 0006-8950
Éditeur: Oxford University Press
DOI: 10.1093/brain/awaa459

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Auteurs: Daniel Epting, Lokuliyange D. S. Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M. Larsen, Julia Wallmeier, Diana Bracht, Kari‐Anne M. Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann‐Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian G. Phelps, Nicholas Katsanis, Rachel Giles, Miriam Schmidts, Manuela Zucknick, Soeren S.
Publié dans: Human Mutation, Numéro 41/12, 2020, Page(s) 2179-2194, ISSN 1059-7794
Éditeur: John Wiley & Sons Inc.
DOI: 10.1002/humu.24127

Cilia in cystic kidney and other diseases

Auteurs: Gregory J. Pazour, Lynne Quarmby, Abigail O. Smith, Paurav B. Desai, Miriam Schmidts
Publié dans: Cellular Signalling, Numéro 69, 2020, Page(s) 109519, ISSN 0898-6568
Éditeur: Elsevier BV
DOI: 10.1016/j.cellsig.2019.109519

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

Auteurs: Jelle Vriend, Janny G.P. Peters, Tom T.G. Nieskens, Renata Škovroňová, Nina Blaimschein, Miriam Schmidts, Ronald Roepman, Tom J.J. Schirris, Frans G.M. Russel, Rosalinde Masereeuw, Martijn J. Wilmer
Publié dans: Biochimica et Biophysica Acta (BBA) - General Subjects, Numéro 1864/1, 2020, Page(s) 129433, ISSN 0304-4165
Éditeur: Elsevier BV
DOI: 10.1016/j.bbagen.2019.129433

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

Auteurs: Michaela Stippel, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Publié dans: Frontiers in Genetics, Numéro 12, 2021, ISSN 1664-8021
Éditeur: Frontiers Media
DOI: 10.3389/fgene.2021.642849

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Auteurs: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Publié dans: Nature Communications, Numéro 12/1, 2021, ISSN 2041-1723
Éditeur: Nature Publishing Group
DOI: 10.1038/s41467-020-20877-8

Non-peer reviewed articles (2)

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transport

Auteurs: Antony D, Güleç EY, Bakey Z, Schüle I, Kim G, Skatulla I, Brunner HG, Arnold SJ, Schmidts M
Publié dans: BioRxiv, 2022, ISSN 2692-8205
Éditeur: Cold Spring Harbor Laboratory
DOI: 10.1101/2022.03.14.483768

Editorial: Genetic Kidney Diseases of Childhood

Auteurs: Miriam Schmidts, Max C. Liebau
Publié dans: Frontiers in Pediatrics, Numéro 6, 2018, ISSN 2296-2360
Éditeur: Frontiers
DOI: 10.3389/fped.2018.00409