Welcome to the HELMBACHER Lab

Hello, and welcome to the Helmbacher lab website ! We work at the Institute of Developmental Biology of Marseille (IBDM), affiliated to the CNRS and the Aix-Marseille University, in the beautiful Campus of Luminy.

Morphogenesis and pathologies of Neuromuscular circuits

The main subject of the Helmbacher lab is the study of neuromuscular circuits. We study this on one hand from a developmental biology point of view, focusing on mechanisms driving morphogenesis of muscles and motor circuit assembly. Simultaneously, we explore this system from a pathophysiology point of view, trying to understand how dysfunction of the neuromuscular system, either during development or at homeostatic adult stages, can cause neuromuscular pathologies. A common theme in these studies is that we focus on cell interactions at the interface between distinct cell types, with our favorite players being motor neurons, muscle cells, and connective tissues.  We currently explore the interactions between connective tissue cells and myogenic cells both in the context of muscle morphogenesis during development and of adult muscle regeneration after acute injuries or pathological contexts such as muscular dystrophies (see our recent review, Helmbacher & Stricker, 2020).

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Do you want to join our team ?

We are always interested in welcoming enthusiastic young scientists in our group, at any stage of your career (undergrads, PhD, post-doc, researcher), whether or not we have specific positions to offer. More information.

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News (recent)

September 2022

Happy to share our new preprint “An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development”.

This is a long due follow up of our past discovery of FSHD-associated Copy number variants deleting a putative FAT1 enhancer (Caruso et al., Plos Genetics 2013). We have explored this possibility by investigating the transcriptional activity of this putative enhancer in vivo.

  • Nathalie Caruso, Angela K. Zimmermann, Tarana Nigam, Celine Becker, Karelia Lipson, Françoise Helmbacher. “An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development” Biorxiv (2022), September 17 | doi: 10.1101/2022.09.14.507898 | PDF

January 2022

I’m delighted to share that the manuscript “Astrocyte-intrinsic and extrinsic Fat1 activities regulate astrocyte development and angiogenesis in the retina” is now published in Development (2022) | doi:10.1242/dev.192047 | PDF |

This study uncovers astrocyte-intrinsic and extrinsic Fat1 activities that influence astrocyte migration polarity, proliferation and maturation, the disruption of which impacts retinal vascular development and maintenance of vascular architecture. 

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See all NEWs

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Selected Publications

2022

  • Nathalie Caruso, Angela K. Zimmermann, Tarana Nigam, Celine Becker, Karelia Lipson, Françoise Helmbacher. “An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development” Biorxiv (2022), September 17 | doi: 10.1101/2022.09.14.507898 | PDF |
  • Françoise Helmbacher. “Astrocyte-intrinsic and extrinsic Fat1 activities regulate astrocyte development and angiogenesis in the retina” Development (2022), January 20 | DOI: 10.1242/dev.192047 | PDF | PMID: 35050341 |

2021

  • Ievgenia Pastushenko, Federico Mauri, Yura Song, Florian de Cock, Bob Meeusen, Benjamin Swedlund, Francis Impens, Delphi Van Haver, Matthieu Opitz, Manuel Thery, Yacine Bareche, Gaelle Lapouge, Marjorie Vermeersch, Yves-Rémi Van Eycke, Cédric Balsat, Christine Decaestecker, Youri Sokolow, Sergio Hassid, Alicia Perez-Bustillo, Beatriz Agreda-Moreno, Luis Rios-Buceta, Pedro Jaen, Pedro Redondo, Ramon Sieira-Gil, Jose F. Millan-Cayetano, Onofre Sanmatrtin, Nicky D’Haene, Virginie Moers, Milena Rozzi, Jeremy Blondeau, Sophie Lemaire, Samuel Scozzaro, Veerle Janssens, Magdalena De Troya, Christine Dubois, David Pérez-Morga, Isabelle Salmon, Christos Sotiriou, Francoise Helmbacher & Cédric Blanpain. Fat1 deletion promotes hybrid EMT state, tumour stemness and metastasis. Nature, (2021) January 21 | PMID: 33328637 | Epub 2020 Dec 16.

2020

  • Emily J Lodge, Paraskevi Xekouki, Tatiane S Silva, Cristiane Kochi, Carlos A Longui, Fabio R Faucz, Alice Santambrogio, James L Mills, Nathan Pankratz, John Lane, Dominika Sosnowska, Tina Hodgson, Amanda L Patist, Philippa Francis-West, Francoise Helmbacher, Constantine Stratakis,  Cynthia L Andoniadou. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development. JCI Insight, (2020) Oct 27 |PMID: 33108146 | PDF |
  • Francoise Helmbacher#, Sigmar Stricker#. Tissue cross talks governing limb muscle development and regeneration (Review article). Seminars in Cell and Developmental Biology, (2020), June 7 |PMID: 32517852 | #: co-corresponding | PDF: Helmbacher & Stricker 2020 |
  • Preprint: Helmbacher, F. Fat1 regulates astrocyte maturation and angiogenesis in the retina. BioRxiv preprint (revised/accepted 13/12/2021, in press see 2022)

2019

  • Jones M., Lingampally A., Dilai S., Shrestha A., Stripp B., Helmbacher F., Chen, C., Chao, C.M., Bellusci S. Characterization of Etv4GFP and Etv5RFP reporter lines in the context of fibroblast growth factor 10 signalling during mouse embryonic lung development. Frontiers in Genetics (2019), 14 March | PMID: 30923534 | doi : 10.3389/fgene.2019.00178 |

2018

  • Petitpré, Wu H, Sharma A, Tokarska A, Fontanet P, Wang Y, Helmbacher F, Yackle K, Silberberg G, Hadjab S, & Lallemend F. Neuronal heterogeneity and stereotyped connectivity in the auditory afferent system. Nature Communications (2018) Sep 12;9(1):3691. | PMID: 30209249 | doi: 10.1038/s41467-018-06033-3 | F1000 |

2015

  • Fan Y, Richelme S, Avazeri E, Helmbacher F, Dono R, and Maina F. Tissue-specific gain of RTK signalling uncovers selective cell vulnerability during embryogenesis. PLOS Genetics (2015) September 22 | PMID : 26393505 | DOI: 10.1371/journal.pgen.1005533 |
  • Mazdak Bagherie-Lachidan, Antoine Reginensi, Hitisha P. Zaveri, Daryl A. Scott, Françoise Helmbacher and Helen McNeill. Stromal Fat4 acts non-autonomously with Dachsous1/2 to restrict the nephron progenitor pool. Development (2015) june 26 | PMID: 26116661 |
    doi: 10.1242/dev.122648 |
  • Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessières B, Collardeau S, Feasson L, Maisonobe T, Magdinier F, Helmbacher F., Mouly V, Butler-Browne G. Dumonceaux J. Correlation between low FAT1 expression and early affected muscle in FSHD. Annals of Neurology (2015) MAY 28 | DOI: 10.1002/ana.24446 | PMID: 26018399 |
  • Puppo F., Dionnet E., Gaillard MC., Gaildrat P., Castro C., Vovan C., Bertaux K., Bernard R., Attarian S., Goto K., Nishino I., Hayashi Y., Magdinier F., Krahn, M., Helmbacher, F., Bartoli, M, and Levy, N. Identification of variants in the 4q35 gene FAT1 in patients with a Facioscapulohumeral dystrophy (FSHD)-like phenotype. Human Mutation (2015) 23 Jan | PMID : 25615407 | DOI: 10.1002/humu.22760

2014

  • Caruso N., Herberth B., Lamballe F., Arce-Gorvel V., Maina F., and Helmbacher F. Plasticity versus specificity in RTK signalling modalities for distinct biological outcomes in motor neurons. BMC Biology (2014) 12:56 | PMID:25124859 | doi:10.1186/s12915-014-0056-6 |
  • Chai G, Zhou L, Manto M, Helmbacher F, Clotman F, Goffinet AM, Tissir F. Celsr3 is required in motor neurons to steer their axons in the hindlimb. Nat. Neuroscience (2014) Aug 10. | PMID: 25108913 | doi:10.1038/nn.3784.

2013

  • Caruso N, Herberth B, Bartoli M, Puppo F, Dumonceaux J, Zimmermann A, Denadai S, Lebossé M, Roche S, Geng L, Magdinier F, Attarian S, Bernard R, Maina F, Levy N, Helmbacher F. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet. (2013) Jun;9(6):e1003550. | PMID: 23785297 | doi: 10.1371/journal.pgen.1003550 |

Complete publication list