Book ChapterDOI
Changes in the Nuclear Envelope in Laminopathies.
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TLDR
This review has focussed on the disruption of nuclear homeostasis due to lamin A/C mutation which produces a plethora of diseases, termed as laminopathies.Abstract:
Double-membrane-bound nucleus is the major organelle of every metazoan cell, which controls various nuclear processes like chromatin maintenance, DNA replication, transcription and nucleoskeleton-cytoskeleton coupling. Nuclear homeostasis depends on the integrity of nuclear membrane and associated proteins. Lamins, underlying the inner nuclear membrane (INM), play a crucial role in maintaining nuclear homeostasis. In this review, we have focussed on the disruption of nuclear homeostasis due to lamin A/C mutation which produces a plethora of diseases, termed as laminopathies.read more
Citations
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Journal ArticleDOI
Clinical genetics of Charcot–Marie–Tooth disease
Yujiro Higuchi,Hiroshi Takashima +1 more
TL;DR: The epidemiology, genetic diagnosis, and clinicogenetic characteristics of CMT in Japan are reviewed, and the newly identified novel causative genes for CMT/IPNs in Japan, namely MME and COA7 are discussed.
Journal ArticleDOI
Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch
TL;DR: The role of Nesprin-2 outside the nucleus in the pathogenesis of hypertrophic scar (HTS) has been reported in many studies as mentioned in this paper, but the role of myofibroblasts in HTS is not clear.
Journal ArticleDOI
A-type lamins involvement in transport and implications in cancer?
N. Scott,Sapun H. Parekh +1 more
TL;DR: Different connections of lamins to nuclear transport are discussed and a number of outlook questions are offered, the answers to which could reveal a new perspective on the connection of lamin to molecular transport of cancer therapeutics, in addition to their established role in nuclear mechanics.
References
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Journal ArticleDOI
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy
Teresa Sullivan,Diana Escalante-Alcalde,Harshida Bhatt,Miriam R. Anver,Narayan K. Bhat,Kunio Nagashima,Colin L. Stewart,Brian Burke +7 more
TL;DR: It is shown that mice lacking A-type lamins develop to term with no overt abnormalities, however, their postnatal growth is severely retarded and is characterized by the appearance of muscular dystrophy.
Journal ArticleDOI
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.
Robert D. Goldman,Dale K. Shumaker,Michael R. Erdos,Maria Eriksson,Anne E. Goldman,Leslie B. Gordon,Leslie B. Gordon,Yosef Gruenbaum,Satya Khuon,Melissa G. Mendez,Renee Varga,Francis S. Collins +11 more
TL;DR: It is shown by light and electron microscopy that HGPS is associated with significant changes in nuclear shape, including lobulation of the nuclear envelope, thickening of thenuclear lamina, loss of peripheral heterochromatin, and clustering of nuclear pores.
Journal ArticleDOI
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin
Thomas Dechat,Katrin Pfleghaar,Kaushik Sengupta,Takeshi Shimi,Dale K. Shumaker,Liliana Solimando,Robert D. Goldman +6 more
TL;DR: An up-to-date overview of the functions of nuclear lamins is provided, emphasizing their roles in epigenetics, chromatin organization, DNA replication, transcription, and DNA repair.
Journal ArticleDOI
LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation
Irina Solovei,Audrey S. Wang,Katharina Thanisch,Christine S. Schmidt,Stefan Krebs,Monika Zwerger,Tatiana V. Cohen,Didier Devys,Roland Foisner,Leo Peichl,Harald Herrmann,Helmut Blum,Dieter Engelkamp,Colin L. Stewart,Heinrich Leonhardt,Boris Joffe +15 more
TL;DR: Myoblast transcriptome analyses indicated that selective disruption of the LBR- or lamin-A-dependent heterochromatin tethers have opposite effects on muscle gene expression, either increasing or decreasing, respectively.
Journal ArticleDOI
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study
TL;DR: It is suggested that commitment of a cell to a particular pathway of differentiation (assayed by cell-type-specific expression of intermediate filament proteins) usually occurs prior to the time that lamin A/C can be detected, and may serve as a limit on the plasticity of cells for further developmental events.