Results 51 to 60 of about 1,703 (200)

Primary laminopathy fibroblasts display altered genome organization and apoptosis

, 2007
A number of diseases associated with specific tissue degeneration and premature aging have mutations in the nuclear envelope proteins A-type lamins or emerin. Those diseases with A-type lamin mutation are inclusively termed laminopathies.
R, Meaburn, KJ, Novelli, G, Kill Ian, R, Cabuy, E, Levy, N, Bridger, JM, Kill Ian, Bonne, G, Morris, GE, NOVELLI, GIUSEPPE   +9 more
core   +1 more source

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging

, 2022
Deleterious, mostly de novo, mutations in the lamin A (LMNA) gene cause spatio‐functional nuclear abnormalities that result in several laminopathy‐associated progeroid conditions.
Kumar, Jeevan, Debasish Kumar Ghosh, Reddy, Chilakala Gangi, Katta M. Girisha, Yesodharan, Dhanya, Dhanya Yesodharan, Jeevan Kumar, Shruti Pande, Periyasamy Radhakrishnan, Akash Ranjan, Sheela Nampoothiri, Nampoothiri, Sheela, Girisha, Katta M., Chilakala Gangi Reddy, Ranjan, Akash, Radhakrishnan, Periyasamy, Ghosh, Debasish Kumar, Pande, Shruti   +17 more
core   +1 more source

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

Cells, 2016
ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD).
Damien Galant, Bénédicte Gaborit, Camille Desgrouas, Ines Abdesselam, Monique Bernard, Nicolas Levy, Françoise Merono, Catherine Coirault, Patrice Roll, Arnaud Lagarde, Nathalie Bonello-Palot, Patrice Bourgeois, Anne Dutour, Catherine Badens   +13 more
doaj   +1 more source

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy

, 2021
International audienceLMNA mutations in patients are responsible for a dilated cardiomyopathy. Molecular mechanisms underlying the origin and development of the pathology are unknown.
Vignier, Nicolas, Leschik, Julia, Watrin, Erwan, Bonne, Gisèle, Jebeniani, Imen, Puceat, Michel, Guenantin, Anne-Claire   +6 more
core   +1 more source

Dialing Down SUN1 for Laminopathies [PDF]

Cell, 2012
Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
openaire   +2 more sources

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice

Aging Cell, Volume 25, Issue 8, August 2026.
Targeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Sandra Freitas‐Rodríguez, Alejandra Valle‐Cao, Francisco Rodríguez, Manuel Fernández‐Sanjurjo, Benjamín Fernández‐García, Vanessa Loredo, María Teresa Fernández‐García, Carmen Fiuza‐Luces, Alejandro Lucia, Carlos López‐Otín, Alejandro López‐Soto, Alicia R. Folgueras   +11 more
wiley   +1 more source

Lipodystrophic laminopathies: Diagnostic clues [PDF]

Nucleus, 2018
The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery.
Cristina Guillín-Amarelle, Antía Fernández-Pombo, Sofía Sánchez-Iglesias, David Araújo-Vilar   +3 more
openaire   +3 more sources

Multiscale Architecture and Mechanics of the Cell Nucleus: Implications for Disease, Bioengineering and Nanomedicine

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu, Xin Chen, Qingyang Zhao, Weikang Tan, Lingrui Zhu, Kin Liao, Vincent Chan, Nicolae Goga, Winfred O. Larkotey, Yang Li, Yinghui Shi, Wenya Shu, Lin Wang, Weiqing Wang, Tian Jian Lu, Yulong Han   +15 more
wiley   +1 more source