Results 71 to 80 of about 2,390 (199)

SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations

Cell Reports, 2023
Summary: The small ubiquitin-like modifier (SUMO) protease SENP6 disassembles SUMO chains from cellular substrate proteins. We use a proteomic method to identify putative SENP6 substrates based on increased apparent molecular weight after SENP6 depletion.
Magda Liczmanska, Michael H. Tatham, Barbara Mojsa, Ania Eugui-Anta, Alejandro Rojas-Fernandez, Adel F.M. Ibrahim, Ronald T. Hay   +6 more
doaj   +1 more source

Nuclear rupture at sites of high curvature compromises retention of DNA repair factors. [PDF]

, 2018
The nucleus is physically linked to the cytoskeleton, adhesions, and extracellular matrix-all of which sustain forces, but their relationships to DNA damage are obscure. We show that nuclear rupture with cytoplasmic mislocalization of multiple DNA repair
Alshareeda, Alvey, Andrea J. Liu, Broers, Burma, Buxboim, Buxboim, Capo-chichi, Chang, Charlotte R. Pfeifer, Coffinier, Cory M. Alvey, Cumming, Darzynkiewicz, Das, Dazhen Liu, de la Rosa, De Vos, Denais, Dennis E. Discher, Dingal, Docheva, Elosegui-Artola, Fong, Frigault, Grundy, Gudmundsdottir, Harada, Harding, Hatch, Hategan, Hernandez, Irena L. Ivanovska, Irianto, Ivanovska, Jerome Irianto, Jiazheng Ji, Kaspi, Kuangzheng Zhu, Lammerding, Larrieu, Levental, Lucas Smith, Nuciforo, Odde, Oh, Raab, Rachel R. Bennett, Roger A. Greenberg, Saez, Samudram, Sangkyun Cho, Schneider, Seluanov, Shin, Soubeyrand, Staszewski, Swift, Takaki, Tamiello, Tang, Turgay, Wang, Yuntao Xia, Álvarez-Quilón   +64 more
core   +2 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

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

Stem Cell Research, 2022
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia.
Sangkyun Cho, Chelsea Lee, Celine Lai, Yan Zhuge, Francois Haddad, Michael Fowler, Karim Sallam, Joseph C. Wu   +7 more
doaj   +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

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]

, 2012
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Beier, David R., Harrison, Wilbur, Koster, Maranke I., Moran, Jennifer L., Overbeek, Paul A., Roop, Dennis R., Tao, Jianning   +6 more
core   +2 more sources

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

Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

Cells, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies—a heterogeneous group of genetic diseases with a molecular background based on mutations in the LMNA gene and genes coding for interacting proteins.
Katarzyna Piekarowicz, Magdalena Machowska, Volha Dzianisava, Ryszard Rzepecki   +3 more
doaj   +1 more source

Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation [PDF]

, 2014
Background - Premature aging syndromes recapitulate many aspects of natural aging and provide an insight into this phenomenon at a molecular and cellular level.
Ashton, Nicholas W., Bolderson, Emma, Box, Joseph K., Croft, Laura V., O'Byrne, Kenneth J., Paquet, Nicolas, Richard, Derek J., Suraweera, Amila, Urquhart, Aaron J., Zhang, Shu-Dong   +9 more
core   +3 more sources

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