Emerging perspectives on laminopathies

Lattanzi, Giovanna; Benedetti, Sara; D’Apice, Maria Rosaria; Maggi, Lorenzo; Carboni, Nicola; Scarano, Emanuela; Politano, Luisa

doi:10.2147/chc.s59507

Cited by 6 publications

(3 citation statements)

References 110 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Nuclear blebs have been observed in several cancerous cells such as in monoblasts of acute monocytic leukaemia (McDuffie 1967 ), Burkitt lymphoma cells (Epsteln et al 1965 ; Achong and Epstein 1966 ), and anaplastic giant cell carcinoma of the thyroid (Caryso et al 2011 ). Accumulation of these blebs has been observed in laminopathies such as premature Hutchinson–Gilford progeria syndrome and Emery–Dreifuss muscular dystrophy (Lattanzi et al 2016 ). Interestingly, nuclear blebbing has also been observed in developing human and guineapig thymocytes (Törö and Oláh 1966 ; Sebuwufu 1966 ) suggesting NE plasticity during functional development and differentiation of the cells.…”

Section: Ne Membrane Deformationsmentioning

confidence: 99%

Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes

Anand

Chaudhuri

2022

J Membrane Biol

View full text Add to dashboard Cite

Nucleus is at the center stage of cellular drama orchestrated in the life of a cell and the nucleoplasm is surrounded by a double membranous compartment constituting the Nuclear membrane/envelope (NE) that separates it from the cytoplasm in nucleated cells. The initial understanding of the NE was that of a border security entity between the nucleus and the cytoplasm, separating gene regulation and transcription in the nucleus from translation in the cytoplasm. However, the discovery of a wide array of inherited diseases caused by mutations in genes encoding proteins that reside or interact with NE diverted the interest into deciphering the lipid-protein-rich environment of the NE. Today, the NE is considered a dynamic organelle which forms a functional linkage between the nucleus and the rest of the cell. The exposure of NE to constant mechanical constraints by its connectivity to the large polymer network of the lamina and chromatin on one side, and to the cytoskeleton on the other side results, in a variety of shape changes. We discuss two such deformation, the formation of nuclear blebs and nucleoplasmic reticulum (NER). Although the protein and the lipid composition of NE comprises a small fraction of the total lipid-protein load of the cell, the ability to define the lipid-protein composition of Inner nuclear membrane (INM) and Outer nuclear membrane (ONM) with precision is crucial for obtaining a deeper mechanistic understanding of their lipid-protein interaction and the various signaling pathways that are triggered by them. In addition, this allows us to further understand the direct and indirect roles of NE machinery in the chromosomal organization and gene regulation. Graphical Abstract

show abstract

Section: Ne Membrane Deformationsmentioning

confidence: 99%

Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes

Anand

Chaudhuri

2022

J Membrane Biol

View full text Add to dashboard Cite

show abstract

“…Клинические признаки заболевания обычно проявляются на 1-2 году жизни ребенка и характеризуются низкорослостью, низкой массой тела, уменьшенной лицевой частью черепа, микрогнатией, липодистрофией, генерализованной остеодисплазией с остеолизом и патологическими переломами (табл. 2), алопецией и преждевременным старением [20,21]. Средняя продолжительность жизни больных составляет 13 лет (от 7 до 27).…”

Section: неонатальный прогероидный синдромunclassified

Hereditary syndromes with signs of premature aging

et al. 2020

View full text Add to dashboard Cite

Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

show abstract

“…Likewise, nuclear function is also integrated with changes in its morphology, which is in turn responsive to cellular processes such as growth, development, aging, and movement. Conversely, functional defects in the proteins of the nuclear matrix and INM are associated with aberrations in nuclear organization [3,4], and lamins [5]. Atypical nuclear shape is observed in many pathological conditions, such as cancer, several striated muscle laminopathies, Hutchinson-Gilford Progeria Syndrome, and mandibuloacral dysplasia [6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Regulation of diverse nuclear shapes: pathways working independently, together

Deolal

Mishra

2021

Communicative & Integrative Biology

View full text Add to dashboard Cite

Membrane-bound organelles provide physical and functional compartmentalization of biological processes in eukaryotic cells. The characteristic shape and internal organization of these organelles is determined by a combination of multiple internal and external factors. The maintenance of the shape of nucleus, which houses the genetic material within a double membrane bilayer, is crucial for a seamless spatio-temporal control over nuclear and cellular functions. Dynamic morphological changes in the shape of nucleus facilitate various biological processes. Chromatin packaging, nuclear and cytosolic protein organization, and nuclear membrane lipid homeostasis are critical determinants of overall nuclear morphology. As such, a multitude of molecular players and pathways act together to regulate the nuclear shape. Here, we review the known mechanisms governing nuclear shape in various unicellular and multicellular organisms, including the non-spherical nuclei and non-lamin-related structural determinants. The review also touches upon cellular consequences of aberrant nuclear morphologies.

show abstract

Emerging perspectives on laminopathies

Cited by 6 publications

References 110 publications

Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes

Grease in the Nucleus: Insights into the Dynamic Life of Nuclear Membranes

Hereditary syndromes with signs of premature aging

Regulation of diverse nuclear shapes: pathways working independently, together

Contact Info

Product

Resources

About