Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient

Shimojima, Masaya; Yuasa, Shinsuke; Motoda, Chikaaki; Yozu, Gakuto; Nagai, Toshihiro; Ito, Shogo; Lachmann, Mark; Kashimura, Shin; Takei, Makoto; Kusumoto, Dai; Kunitomi, Akira; Hayashiji, Nozomi; Seki, Tomohisa; Tohyama, Shugo; Hashimoto, Hisayuki; Kodaira, Masaki; Egashira, Toru; Hayashi, Kenshi; Nakanishi, Chiaki; Sakata, Kenji; Yamagishi, Masakazu; Fukuda, Keiichi

doi:10.1038/srep44312

Cited by 32 publications

(28 citation statements)

References 71 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutant forms of emerin show diminished transport to the inner nuclear membrane, and have been associated with decreased nuclear invagination and abnormalities in nuclear Ca ++ transients …”

Section: Pathophysiologymentioning

confidence: 99%

“…38,39 Mutant forms of emerin show diminished transport to the inner nuclear membrane, 68 and have been associated with decreased nuclear invagination and abnormalities in nuclear Ca ++ transients. 69 In the case of LMNA mutations, and the associated effects on LMNA, there also appears to be an effect on myocytes and muscle regeneration, as these proteins are expressed in mature myocytes, skeletal muscle stem cells, and satellite cells. 70 Thus, mutations in LMNA can lead to impaired muscle regeneration, and ultimately a progressive muscular dystrophy.…”

Section: Pathophysiologymentioning

confidence: 99%

See 1 more Smart Citation

Emery‐Dreifuss muscular dystrophy

et al. 2019

View full text Add to dashboard Cite

Emery‐Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy, but is particularly important to diagnose due to frequent life‐threatening cardiac complications. EDMD classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy, although the presence and severity of these manifestations vary by subtype and individual. Associated genes include EMD, LMNA, SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, and TTN, encoding emerin, lamin A/C, nesprin‐1, nesprin‐2, FHL1, LUMA, SUN1, SUN2, and titin, respectively. The Online Mendelian Inheritance in Man database recognizes subtypes 1 through 7, which captures most but not all of the associated genes. Genetic diagnosis is essential whenever available, but traditional diagnostic tools can help steer the evaluation toward EDMD and assist with interpretation of equivocal genetic test results. Management is primarily supportive, but it is important to monitor patients closely, especially for potential cardiac complications. There is a high potential for progress in the treatment of EDMD in the coming years.

show abstract

“…Mutant forms of emerin show diminished transport to the inner nuclear membrane, and have been associated with decreased nuclear invagination and abnormalities in nuclear Ca ++ transients …”

Section: Pathophysiologymentioning

confidence: 99%

Section: Pathophysiologymentioning

confidence: 99%

Emery‐Dreifuss muscular dystrophy

et al. 2019

View full text Add to dashboard Cite

show abstract

“…In addition, expression levels of nesprin-1 were increased in fibroblasts derived from DCM patients and the localisation of nesprin-1 at the NE was totally absent in myoblasts derived from CMD patients [10,30]. Disrupted LINC complex, altered nuclear morphology and perturbed myogenesis were also reported in EDMD/DCM disorders caused by lamin A/C or emerin mutations, suggesting that an intact LINC complex is critical for maintaining muscular physiological functions [61][62][63][64][65].…”

Section: Nesprin-1/2 Mutations and Muscle Diseasementioning

confidence: 99%

Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease

Zhou

Shanahan

et al. 2018

Biochemical Society Transactions

View full text Add to dashboard Cite

Nesprins (nuclear envelope spectrin repeat proteins) are multi-isomeric scaffolding proteins. Nesprin-1 and -2 are highly expressed in skeletal and cardiac muscles and together with SUN (Sad1p/UNC84) domain-containing proteins form the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM). Several lines of evidence indicate that compromised LINC complex function is the critical step leading to muscle disease. Here, we review recent advances in our understanding of the functions of nesprin-1/2 in the LINC complex and mechanistic insights into how mutations in nesprin-1/2 lead to nesprin-related muscle diseases, in particular DCM and EDMD.

show abstract

“…Alternatively, nuclear membrane may convert tension into biochemical signals, notably by mediating store release of Ca 2+ at the outer nuclear membrane through mechanosensitive ion channels. For instance, the nuclear membrane protein, emerin, was recently shown to play a crucial role in nuclear structure and the production of transient nuclear Ca 2+ peaks in animals (Shimojima et al 2017 ). In that regard, nuclear pore complexes may play a similar role in calcium signalling in plants (Charpentier and Oldroyd 2013 ).…”

Section: Conclusion: Avenues For Future Research In Plantsmentioning

confidence: 99%

Nuclear envelope: a new frontier in plant mechanosensing?

et al. 2017

View full text Add to dashboard Cite

In animals, it is now well established that forces applied at the cell surface are propagated through the cytoskeleton to the nucleus, leading to deformations of the nuclear structure and, potentially, to modification of gene expression. Consistently, altered nuclear mechanics has been related to many genetic disorders, such as muscular dystrophy, cardiomyopathy and progeria. In plants, the integration of mechanical signals in cell and developmental biology has also made great progress. Yet, while the link between cell wall stresses and cytoskeleton is consolidated, such cortical mechanical cues have not been integrated with the nucleoskeleton. Here, we propose to take inspiration from studies on animal nuclei to identify relevant methods amenable to probing nucleus mechanics and deformation in plant cells, with a focus on microrheology. To identify potential molecular targets, we also compare the players at the nuclear envelope, namely lamina and LINC complex, in both plant and animal nuclei. Understanding how mechanical signals are transduced to the nucleus across kingdoms will likely have essential implications in development (e.g. how mechanical cues add robustness to gene expression patterns), in the nucleoskeleton–cytoskeleton nexus (e.g. how stress is propagated in turgid/walled cells), as well as in transcriptional control, chromatin biology and epigenetics.

show abstract

Emerin plays a crucial role in nuclear invagination and in the nuclear calcium transient

Cited by 32 publications

References 71 publications

Emery‐Dreifuss muscular dystrophy

Emery‐Dreifuss muscular dystrophy

Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease

Nuclear envelope: a new frontier in plant mechanosensing?

Contact Info

Product

Resources

About