Author

J. J. Vilchez

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· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:biophysical modeling· 1 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

A. D'Amico· 1 shared A. Hau· 1 shared A. Liquori· 1 shared A. Lopez-Martinez· 1 shared A. Oldfors· 1 shared E. Gonzalez-Romero· 1 shared E. Malfatti· 1 shared E. Zanoteli· 1 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperPhysiology

A. D'Amico

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

J. Poyatos-Garcia, P. Soblechero-Martin, A. Liquori, A. Lopez-Martinez, E. Gonzalez-Romero, R. P. Vazquez-Manrique, N. Muelas, G. Garcia-Garcia, J. Ohana, V. Arechavala-Gomeza, J. J. Vilchez

The paper restores dystrophin expression in DMD cells by replicating a specific exon deletion and creates a new cell model to study the mutation's effects.

bioRxiv · Sep 13, 2023 · PreprintCell Biology

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