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EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

ABSTRACT: EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

PROVIDER: PRJNA638664 | ENA |

REPOSITORIES: ENA

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EDMD-causing emerin mutant myogenic progenitors exhibit impaired differentiation using similar mechanisms

Project description:RNA sequencing was performed on proliferating and differentiating emerin-null myogenic progenitors expressing emerin and EDMD-causing emerin mutants to identify molecular pathways implicated in Emery-Dreifuss Muscular Dystrophy.

2020-07-01 | GSE152226 | GEO

Loss of the Nuclear Envelope Protein LAP1B Disrupts Myogenic Differentiation of Patient-Derived Fibroblasts

Project description:Lamina-associated polypeptide 1 (LAP1) is a ubiquitously expressed inner nuclear membrane protein encoded by TOR1AIP1, and present as two isoforms in humans, LAP1B and LAP1C. While loss of both isoforms results in a multisystemic progeroid-like syndrome, specific loss of LAP1B causes muscular dystrophy and cardiomyopathy, suggesting that LAP1B has a critical role in striated muscle. To gain more insight into the molecular pathophysiology underlying muscular dystrophy caused by LAP1B, we established a patient-derived fibroblast line transdifferentiated into myogenic cells with inducible MyoD expression. Compared to controls, we observed strikingly reduced myogenic differentiation and fusion potentials. Similar defects were observed in C2C12 myoblasts carrying loss-of-function LAP1A/B mutations. Using RNA sequencing, we showed that despite MyoD overexpression and efficient cell cycle exit, transcriptional reprogramming of LAP1B-deficient cells into the myogenic lineage was impaired with delayed activation of myogenin and muscle-specific downstream genes. Gene set enrichment analysis suggested dysregulation of protein metabolism, extracellular matrix and chromosome organization. Finally, we found that LAP1B-deficient cells exhibit nuclear deformations such as increased micronuclei and altered morphometric parameters. This study reports the phenotypic and transcriptomic changes during myoconversion of patient-derived fibroblasts and provides a useful resource to gain new insights into the mechanisms implicated in LAP1B-associated nuclear envelopathies.

2022-10-02 | GSE214495 | GEO

Human Sandhoff Disease Cerebral Organoids Exhibit Enlarged Size, Increased Cellular Proliferation, and Impaired Differentiation

Project description:Human Sandhoff Disease Cerebral Organoids Exhibit Enlarged Size, Increased Cellular Proliferation, and Impaired Differentiation

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Transcriptome analysis of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation

Project description:Analysis of the transcriptome of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation. The main goal is to identify the similarities of zMNC myogenic differentiation with that of mammalian myoblast differentiation. Critical time points were used to identify a switch from the activity of cell proliferation genes to myogenic structural genes. 15-20 adult zebrafish dorsal skeletal muscles were isolated at each of 6 distinct time points (day 0, day 1, day 4, day 7, day 10, day 14) in replicates.

2010-04-07 | E-GEOD-19754 | biostudies-arrayexpress

Expression profiling of differentiating emerin-null myogenic progenitor identifies molecular pathways implicated in their impaired differentiation

Project description:Expression profiling of differentiating emerin-null myogenic progenitor identifies molecular pathways implicated in their impaired differentiation

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Transcriptome analysis of zebrafish mononuclear myogenic cells (zMNCs) during myogenic differentiation

2010-03-30 | GSE19754 | GEO

Low responders to endurance training exhibit impaired hypertrophy and divergent biological process responses in skeletal muscle

Project description:Low responders to endurance training exhibit impaired hypertrophy and divergent biological process responses in skeletal muscle

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SNAIL is a key regulator of rhabdomyosarcoma progression and myogenic differentiation

Project description:Rhabdomyosarcoma (RMS) is a frequent non-epithelial tumor of soft tissue that originates from a myogenic differentiation defect. Expression of SNAIL transcription factor is elevated in the alveolar subtype of RMS, characterized by a low myogenic differentiation status and high aggressiveness. SNAIL affects RMS metastasis by reorganization of actin cytoskeleton, regulation of ezrin expression and chemotaxis to HGF and SDF-1. The differentiation of human RMS diminishes SNAIL level. SNAIL silencing completely abolishes the growth of human RMS xenotransplants. SNAIL inhibits myogenic differentiation of RMS by binding to the MYF5 promoter, suppressing its expression, displacing MYOD from canonical to alternative E-box sequences and regulating myomiRs expression. SNAIL silencing allows the re-expression of MYF5 and canonical MYOD binding, promoting RMS cell myogenic differentiation. These novel results open potential avenues for the development of innovative therapeutic strategies based on SNAIL silencing.

2020-07-14 | PXD006711 | Pride

Expression profiling of differentiating emerin-null myogenic progenitor identifies molecular pathways implicated in their impaired differentiation

Project description:RNA sequencing was performed on proliferating and differentiating wildtype and emerin-null myogenic progenitors to identify molecular pathways implicated in Emery-Dreifuss Muscular Dystrophy.

2017-10-31 | GSE104560 | GEO

Stromal fibroblasts exhibit a similar transcriptome to mesenchymal stem cells in the perimenopausal endometrium

Project description:Mesenchymal stem cells (eMSC) from perimenopausal (PeriM) endometrium do not exhibit significantly different transcriptomes from their premenopausal (PreM) counterparts, but PeriM endometrial stromal fibroblasts (eSF) demonstrate altered pathway activation.We compared transcriptomes of PeriM and PreM eSF, investigated if eMSC persist in PeriM endometrium, and whether eMSC and eSF undergo changes as a result of the perimenopausal endocrine milieu.Endometrium was obtained from 9 PeriM and 9 PreM women. Microarray analysis was performed on FACS-isolated eSF and eMSC and data were validated by quantitative RT-PCR. eMSC were immuofluorescently localized to the perivascular region of PeriM endometrium.Principal component analysis showed that cells clustered into three distinct groups in 3-dimensional space: PeriM eMSC and PreM eMSC clustered together, while PeriM eSF and PreM eSF formed two discrete clusters separate from eMSC. Hierarchical clustering revealed a branching pattern consistent with the PCA results, indicating that eMSC from PreM and PeriM women exhibited a similar transcriptomic signature. Pathway analysis revealed dysregulation of cytoskeleton, proliferation, and survival pathways in PeriM vs. PreM eSF. A number of small nucleolar RNAs were also differentially regulated in PeriM eSF.Cell populations have altered gene expression in PeriM vs. PreM endometrium. While eMSC populations exhibited similar transcriptomes, PeriM eSF had altered pathway activation when compared to PreM eSF. This study provides insight into aging endometrium with relevance to function, including pregnancy establishment in reproductively older women.

2017-03-29 | GSE97163 | GEO

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