Results 71 to 80 of about 473 (164)

Sterile inflammation in laminopathies

European Journal of Cell Biology
Sterile inflammation, an immune response triggered in the absence of pathogens, plays a key role in various chronic diseases, including aging-related disorders, cancer, and autoimmune conditions. This process is driven by damage-associated molecular patterns, such as self-DNA in the cytosol, which activate innate immune pathways and contribute to ...
Rafael Cancado de Faria, Susana Gonzalo
openaire   +2 more sources

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Laminopathies [PDF]

Nucleus, 2018
Lattanzi G, Maggi L, AraujoVilar D
openaire   +3 more sources

miR‐140‐5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson‐Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway

Aging Cell, Volume 24, Issue 12, December 2025.
This study identifies a novel molecular mechanism involving miR‐140‐5p that contributes to the pathogenesis of HGPS. By decreasing NRF2 expression, miR‐140‐5p overexpression results in downregulation of the NRF2/KEAP1/HO‐1 antioxidant pathway in HGPS fibroblasts, leading to increased oxidative stress and mitochondrial dysfunction, two hallmarks of ...
Léa Toury, Diane Frankel, Sara Nael, Mario Abaji, Léa Le Goff, Marie Basset, Coraline Airault, Bertrand Vernay, Elva María Novoa‐del‐Toro, Catherine Bartoli, Anaïs Baudot, Frederique Magdinier, Elise Kaspi, Patrice Roll   +13 more
wiley   +1 more source

SENP6 Maintains Mitochondrial Homeostasis by Regulating Mitochondrial Protein Import Through deSUMOylation of TOM40

Advanced Science, Volume 12, Issue 40, October 27, 2025.
SUMOylation regulates mitochondrial processes, but its impact on protein import remains unclear. TOM40 is identified, a mitochondrial outer membrane channel protein, as a substrate of deSUMOylase SENP6. TOM40 SUMOylation disrupts outer membrane complex assembly, inhibits protein import, and compromises mitochondrial homeostasis.
Liubing Hu, Jianshuang Li, Haolin Guo, Lei Su, Peina Dong, Juan Huang, Yanyan Liu, Xinjie Liu, Zhenhuan Luo, Wei Xiong, Zhenyu Ju, Qinghua Zhou, Hao Wang, Wenjun Wang   +13 more
wiley   +1 more source

LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Архивъ внутренней медицины
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik, A. A. Kovaleva, M. Kh. Shurdumova, D. E. Emelyanovich, A. P. Smirnov, V. Y. Voinova   +5 more
doaj   +1 more source

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A [PDF]

Studies of laminopathy-based progeria offer insights into aging-associated diseases and highlight the role of LMNA in chromatin organization. Mandibuloacral dysplasia type A (MAD) is a largely unexplored form of atypical progeria that lacks lamin A post ...
Shaoshuai Jiang, He, Yi, Xinyi Liu, Jin, Wei, Lu, Xiaomei, Zhou, Zhongjun, Liu, Xinguang, Yi He, Junjun Ding, Liu, Xinyi, Zhongjun Zhou, Weinian Shou, Jingchun Ma, Xiaomei Lu, Wei Jin, Ma, Jingchun, Shou, Weinian, Ding, Junjun, Guoxiang Jin, Zhihong Chen, Xinguang Liu, Chen, Zhihong, Tuo Li, Jin, Guoxiang, Jiang, Shaoshuai, Li, Tuo   +25 more
core   +1 more source

The Inner Nuclear Membrane Has a Unique Lipid Signature

BioEssays, Volume 47, Issue 10, October 2025.
The inner nuclear membrane (INM) has a distinct lipid profile, most notably characterized by high enrichment of phosphatidylserine (PS). In this review, Yang Niu and Tamas Balla summarize recent advances in elucidating the INM's lipid composition and related metabolic pathways, while elaborating further on their potential functional roles.
Yang Niu, Tamas Balla
wiley   +1 more source

Atrial‐secondary tricuspid regurgitation: a better prognosis in early stage heart failure, but not in late stage

ESC Heart Failure, Volume 12, Issue 5, Page 3435-3443, October 2025.
Atrial TR as more favourable prognosis except in advanced patients. Abstract Background and Aims Although the classification of secondary tricuspid regurgitation (STR) by atrial or ventricular aetiology (A‐STR or V‐STR) carries prognostic importance, the confounding effects of New York Heart Association (NYHA) class have not yet been elucidated.
Corentin Bourg, K. Charlotte Lee Frost, Augustin Coisne, Elizabeth Curtis, Guillaume L'official, Yoan Lavie‐Badie, Léo Lemarchand, Julien Dreyfus, Emmanuel Oger, Erwan Donal   +9 more
wiley   +1 more source

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy [PDF]

, 2020
PURPOSE: Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies.
Martin, CA, Smith, KR, Stevens, HE, Lopez, FJ, Patch, C, Boustred, CR, Zarowiecki, M, Smith, SC, Elgar, G, Odhams, CA, Tregidgo, C, Tucci, A, Greville-Heygate, S, Jackson, AP, Need, AC, Sosinsky, A, Boissiere, JM, Riesgo-Ferreiro, P, Stuckey, A, Sultana, R, Daugherty, LC, Wood, SM, Suri, M, Holman, JE, Marsh, JA, Foulger, RE, Sawant, K, McDonagh, EM, Blyth, M, Jackson, R, Brittain, H, Craig, CEH, Bleda, M, Donnelly, D, Rogers, T, Caulfield, MJ, Scott, RH, Henderson, S, Murugaesu, N, Boardman-Pretty, F, Siddiq, A, Lachlan, K, Leong, IUS, Perez-Gil, D, Pereira, MB, Witkowska, K, Williams, E, Hackett, JM, Rea, G, Ambrose, JC, Jones, LJ, Greene, P, Furió-Tarí, P, Watters, SA, de Burca, A, Hubbard, TJP, Kayikci, M, Maleady-Crowe, F, Mueller, M, Rahim, T, Welland, MJ, Devereau, A, Sieghart, A, Lawson, K, Leigh, SEA, Fowler, T, Orioli, A, Lahnstein, L, Mason, J, Kousathanas, A, Cox, H, Savage, K, Smedley, D, Rendon, A, Walsh, E, Thompson, SR, Moutsianas, L, Polychronopoulos, D, Hamblin, A, Quigley, AJ, Kasperaviciute, D, Baple, EL, Chan, GC, Harrison, V, Ibáñez, K, Arumugam, P, Ryten, M, Spooner, W, Greenhalgh, L, Giess, A, Tanguy, M, McKenna, C, Halai, D, Parry, DA, Robertson, L, Thomas, ERA, Pullinger, J   +96 more
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