Publications

A mechanistic basis of fast myofiber vulnerability to neuromuscular diseases.

Matthieu Dos Santos*, Svetlana Bezprozvannaya, Joseph R. McAnally, Chunyu Cai, Ning Liu, Eric N. Olson. Cell Reports, 2025, 44(7): 115959.*First author.

I discovered that the transcription factor Maf activates fast glycolytic myofiber gene program in response to innervation. In neuromuscular diseases, this program is repressed, and Maf overexpression can block atrophy and restore fast-gene expression.

A molecular pathway for cancer cachexia–induced muscle atrophy revealed at single-nucleus resolution.

Yichi Zhang†, Matthieu Dos Santos†, Huocong Huang, Kenian Chen, Puneeth Iyengar, Rodney Infante, Patricio M Polanco, Rolf A Brekken, Chunyu Cai, Ambar Caijgas, Karla Cano Hernandez, Lin Xu, Rhonda Bassel-Duby, Ning Liu, Eric N Olson. Cell Reports, 2024, 43(8): 114587. †Co-First author.

I performed and analyzed multiome single nucleus RNA-seq and ATAC-seq on cachectic skeletal muscle to discover myofiber transcriptional dysregulation during atrophy.

Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution.

Matthieu Dos Santos*, Akansha M Shah, Yichi Zhang, Svetlana Bezprozvannaya, Kenian Chen, Lin Xu, Weichun Lin, John R McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson. Nature Communications. Nature Communications, 2023, 14: 4333. *First author.

I generated a Multiomic single nucleus RNA-seq and ATAC-seq atlas of skeletal muscle across development and adulthood and found that Maf promotes postnatal maturation of fast glycolytic myofibers.

Single-nucleus RNA-seq and FISH identify coordinated transcriptional activity in mammalian myofibers.

Matthieu Dos Santos*, Stéphanie Backer, Benjamin Saintpierre, Brigitte Izac, Muriel Andrieu, Franck Letourneur, Frederic Relaix, Athanassia Sotiropoulos, Pascal Maire. Nature Communications, 2020, 11: 5102. *First author.

During my PhD, I developed methods to isolate myonuclei from multinucleated myofibers and perform single nucleus RNA-seq and single nuclei ATAC-seq, enabling the discovery of specialized myonuclear populations at the myotendinous junction and neuromuscular junction.

A fast Myosin super enhancer dictates muscle fiber phenotype through competitive interactions with Myosin genes.

Matthieu Dos Santos*,  Stéphanie Backer, Frédéric Auradé, Matthew Man-Kin Wong, Maud Wurmser, Rémi Pierre, Francina Langa, Marcio Do Cruzeiro, Alain Schmitt, Jean-Paul Concordet, Athanassia Sotiropoulos, Jeffrey Dilworth, Daan Noordermeer, Frédéric Relaix, Iori Sakakibara, Pascal Maire. Nature Communications, 2022, 13: 1039. *First author.

During my PhD, I identified a super-enhancer upstream of the myosin heavy-chain locus that controls myosin gene expression and muscle physiological properties.

Extraction and sequencing of single nuclei from murine skeletal muscles.

Matthieu Dos Santos*‡, Stamatia Gioftsidi, Stéphanie Backer, Léo Machado, Frederic Relaix, Pascal Maire, Philippos Mourikis. STAR Protocols, 2021, 2(4): 100893. *‡ First author and Corresponding author.

This is a method I developed for robust single-nucleus RNA-seq from skeletal muscle, now widely used in the field.

Protocol for muscle fiber type and cross-sectional area analysis in cryosections of whole lower mouse hindlimbs.

Edmund Battey†, Matthieu Dos Santos†, Dipsikha Biswas, Pascal Maire, Kei Sakamoto. STAR Protocols, 2024, 5(4): 103424. †Co-First author.

This is a method I developed for freezing, sectioning, and analyzing whole hindlimbs skeletal muscle to quantify myofiber types and cross-sectional area.

Other publications:

Cellular Reprogramming by PHF7 Enhances Cardiac Function Following Myocardial Infarction.

Glynnis Garry Bann, Matthieu Dos Santos, Kenian Chen, Wei Tan, Svetlana Bezprozvannaya, Peiheng Gan, Lin Xu, Ning Liu, Rhonda Bassel-Duby, Eric N Olson. Circulation, 2025, 151(16): 1320–1334.

Identification of FDA-approved drugs that induce heart regeneration in mammals.

Mahmoud Salama Ahmed, Ngoc Uyen Nhi Nguyen, Yuji Nakada, Ching-Cheng Hsu, Ayman Farag, Nicholas T Lam, Ping Wang, Suwannee Thet, Ivan Menendez-Montes, Waleed M Elhelaly, Xi Lou, Ilaria Secco, Mateusz Tomczyk, Lorena Zentilin, Jimin Pei, Miao Cui, Matthieu Dos Santos, Xiaoye Liu, Yan Liu, David Zaha, Gregory Walcott, Diana R Tomchick, Chao Xing, Cheng Cheng Zhang, Nick V Grishin, Mauro Giacca, Jianyi Zhang, Hesham A Sadek. Nature Cardiovascular Research, 2024, 3: 1122–1138.

Overlapping functions of SIX homeoproteins during embryonic myogenesis.

Maud Wurmser, Rouba Madani, Nathalie Chaverot, Stéphanie Backer, Matthew Borok, Matthieu Dos Santos, Glenda Comai, Shahragim Tajbakhsh, Frédéric Relaix, Marc Santolini, Ramkumar Sambasivan, Rulang Jiang, Pascal Maire. PLoS Genetics, 2023, 19(6): e1010781.

Tissue damage induces a conserved stress response that initiates quiescent muscle stem cell activation.

Léo Machado, Perla Geara, Jordi Camps, Matthieu Dos Santos, Fatima Teixeira-Clerc, Jens Van Herck, Hugo Varet, Rachel Legendre, Jean-Michel Pawlotsky, Maurilio Sampaolesi, Thierry Voet, Pascal Maire, Frederic Relaix, Philippos Mourikis. Cell Stem Cell, 2021, 28(6): 1125–1135.e7.

Myogenesis control by SIX transcriptional complexes.

Pascal Maire, Matthieu Dos Santos, Rouba Madani, Iori Sakakibara, Camille Viaut, Maud Wurmser. Seminars in Cell & Developmental Biology, 2020, 104: 51–64.

Induction of bone marrow-derived cells myogenic identity by their interactions with the satellite cell niche.

Kamil Kowalski, Matthieu Dos Santos, Pascal Maire, Maria A Ciemerych, Edyta Brzoska. Stem Cell Research & Therapy, 2018, 9(1): 258.

Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy.

Delphine Sapaly, Matthieu Dos Santos, Perrine Delers, Olivier Biondi, Gwendoline Quérol, Léo Houdebine, Kevinee Khoobarry, François Girardet, Philippe Burlet, Anne-Sophie Armand, Christophe Chanoine, Jean-François Bureau, Frédéric Charbonnier, Suzie Lefebvre. Scientific Reports, 2018, 8: 2075.

Six1 homeoprotein drives myofiber type IIA specialization in soleus muscle.

Iori Sakakibara, Maud Wurmser, Matthieu Dos Santos, Marc Santolini, Serge Ducommun, Romain Davaze, Anthony Guernec, Kei Sakamoto, Pascal Maire. Skeletal Muscle, 2016, 6(1): 30.