Identification of Dp140 and α1-syntrophin as novel molecular interactors of the neuronal CaV2.1 channel

Leyva-Leyva, Margarita; Sandoval, Alejandro; Morales‐Lázaro, Sara L.; Corzo-López, Alejandra; Felix, Ricardo; González‐Ramírez, Ricardo

doi:10.1007/s00424-023-02803-1

Cited by 2 publications

(2 citation statements)

References 38 publications

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“…Recent studies have described association of dystrophin with alternative partners in specific cells and tissues, such as aquaporin 4, calcium, and potassium channels. 63 , 64 , 65 , 66 , 67 However, the exact molecular mechanisms driven by these interactions remain to be investigated. Dp412e was identified as an “embryonic” isoform induced during the formation of early mesoderm progenitors and embryoid bodies from hiPSCs.…”

Section: Discussionmentioning

confidence: 99%

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells

Mozin,

Massouridès,

Mournetas

et al. 2024

iScience

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Section: Discussionmentioning

confidence: 99%

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells

Mozin,

Massouridès,

Mournetas

et al. 2024

iScience

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“…In skeletal and cardiac muscles, the Dp427m dystrophin isoform is known to interact with the dystrophin-associated protein complex (DAPC), but in other tissues, the protein partners of other isoforms are less characterized. Recent studies have described association of dystrophin with alternative partners in specific cells and tissues, such as aquaporin 4, calcium and potassium channels [63][64][65][66][67] . However, the exact molecular mechanisms driven by these interactions reman to be investigated.…”

Section: Discussionmentioning

confidence: 99%

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis

Mozin,

Massouridès,

Mournetas

et al. 2023

Preprint

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SummaryMutations in theDMDgene lead to Duchenne muscular dystrophy, a severe X-linked neuromuscular disorder which manifests itself as young boys acquire motor functions. DMD is diagnosed after 2 to 4 years, but the absence of dystrophin has an impact before symptoms appear in patients, which poses a serious challenge in the optimization of standards of care. In this report, we investigated the early consequences of dystrophin deficiency during skeletal muscle development. We used single-cell transcriptome profiling to characterize the myogenic trajectory of human pluripotent stem cells and showed that DMD cells bifurcate to an alternative branch when they reach the somite stage. Here, dystrophin deficiency was linked to marked dysregulations of cell junction families involved in the cell state transitions characteristic of somitogenesis. Altogether, this work demonstrates thatin vitro, dystrophin deficiency has early consequences during myogenic development, which should be considered in future therapeutic strategies for DMD.

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Identification of Dp140 and α1-syntrophin as novel molecular interactors of the neuronal CaV2.1 channel

Cited by 2 publications

References 38 publications

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis from pluripotent stem cells

Dystrophin deficiency impairs cell junction formation during embryonic myogenesis

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