Author

F. Muntoni

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Cell Biology· 2 Biochemistry· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 3 Approach:experimental assay· 3 Organism:human· 3 Research Focus:differential expression· 2 Approach:biophysical modeling· 1 Assay:bulk RNA-seq· 1 Research Focus:cell signaling & trafficking· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

A. D'Amico· 1 shared A. Hau· 1 shared A. Kowala· 1 shared A. Manzur· 1 shared A. Oldfors· 1 shared A. Paredes-Redondo· 1 shared A. S. Walimbe· 1 shared A. Tinker· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 10 mutual co-author links

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Curved chords = mutual co-authorship

1 shared paperPhysiology

A. D'Amico

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration

G. Carrington, A. Hau, S. Kosta, H. Dugdale, F. Muntoni, A. D'Amico, P. Van den Bergh, N. Romero, E. Malfatti, J. J. Vilchez, A. Oldfors, S. Pajusalu, K. Ounap, M. Giralt-Pujol, E. Zanoteli, , J. Ochala

This study investigates how mutations in MYH7 and MYH2 genes affect myosin structure and function, finding that they disrupt coiled-coil structure and increase ATP consumption without affecting contractile function.

bioRxiv · May 15, 2023 · PreprintPhysiology

CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model

C. Morera, J. Kim, A. Paredes-Redondo, M. Nobles, D. Rybin, R. Moccia, A. Kowala, J. Meng, S. Garren, P. Liu, J. E. Morgan, F. Muntoni, N. Christoforou, J. Owens, A. Tinker, Y.-Y. Lin

This study uses CRISPR to correct dystrophin mutations in DMD patient-derived PSCs, revealing impaired Ca2+ handling and showing rescue through gene correction.

bioRxiv · Feb 17, 2022Cell Biology

DLL4 and PDGF-BB regulate migration of human iPSC-derived skeletal myogenic progenitors

G. Ferrari, S. Choi, L. A. Moyle, K. Mackinlay, N. Naouar, C. Wells, F. Muntoni, F. S. Tedesco

This study shows that DLL4 and PDGF-BB enhance migration of hiPSC-derived myogenic progenitors without affecting proliferation, supporting their use in muscle therapies.

bioRxiv · Feb 28, 2021 · PreprintCell Biology

POMK Regulates Dystroglycan Function via LARGE-mediated Elongation of Matriglycan

A. S. Walimbe, H. Okuma, S. Joseph, T. Yang, T. Yonekawa, J. M. Hord, D. Venzke, M. E. Anderson, S. Torelli, A. Manzur, M. Devereaux, M. Cuellar, S. Prouty, S. Ocampo Landa, L. Yu, , K. P. Campbell

This study shows that POMK phosphorylates core M3 to enable LARGE to elongate matriglycan on dystroglycan, preventing muscular dystrophy.

bioRxiv · Apr 6, 2020Biochemistry