Results 151 to 160 of about 47,217 (278)

SART3 promotes homologous recombination repair by stimulating DNA-RNA hybrids removal and DNA end resection

Nature Communications
DNA–RNA hybrids triggered by double-strand breaks (DSBs) are crucial intermediates during DSB repair, and their timely resolution requires numbers of RNA helicases, including DEAD box 1 (DDX1).
Hui Fu, Min Huang, Honglin Wu, Hui Zheng, Yifei Gong, Lingyu Xing, Juanjuan Gong, Ruiyuan An, Qian Li, Xinyu Jie, Xiaolu Ma, Tie-Shan Tang, Caixia Guo   +12 more
doaj   +1 more source

Enhancing antitumour response to proteasome inhibitors with inhibitors of insulin‐degrading enzyme, a new molecular vulnerability in multiple myeloma

British Journal of Pharmacology, EarlyView.
Inhibitors of insulin‐degrading enzyme boost PI cytotoxicity through an increased sensitivity of proteasome to PI inhibitors, induction of ISR, DNA damage and Myc down‐regulation. They overcome PI resistance in vitro and induce tumour regression in vivo.
Laetitia Lesire, Rebecca Deprez‐Poulain, Damien Bosc, Florence Leroux, Valerie Landry, Sarah Ourabah, Morgane Tardy, Clara Maillard, Ronan Gealageas, Julie Dumont, Adrien Herledan, Sandrine Warenghem, Manon Cruette, Celine Lenglart, Alexandre Biela, Catherine Piveteau, Eva De Smedt, Catharina Muylaert, Wenguang Liang, Elvira Garcia De Paco, Elina Alaterre, Sara Ovejero, Nicolas Robert, Fabien Delahaye, Wei‐Jen Tang, Peter van Endert, Elke De Bruyne, Jérôme Moreaux, Benoit Deprez   +28 more
wiley   +1 more source

Maintenance of Yeast Genome Integrity by RecQ Family DNA Helicases. [PDF]

Genes (Basel), 2020
Gupta SV, Schmidt KH.
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease. [PDF]

Genes (Basel), 2020
Peter B, Falkenberg M.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Multicentric Asynchronous Endocrine Mucin‐Producing Sweat Gland Carcinoma and Mucinous Carcinoma of the Skin

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Endocrine mucin‐producing sweat gland carcinoma (EMPSGC) is an adnexal neoplasm which typically occurs on periorbital skin and demonstrates overlapping histopathologic features with primary mucinous carcinoma of the skin (MCS). Herein, we report a patient who developed five distinct lesions of EMPSGC and MCS over an eight‐year period, some of ...
Ikuko Hirai, Joseph F. Sobanko, Tara C. Mitchell, Jacquelyn Roth, Rosalie Elenitsas, Emily Y. Chu   +5 more
wiley   +1 more source

Oxygen‐independent expression of HIF‐1α during the cell cycle in hepatocellular carcinoma cells controls essential metabolic pathways under normoxia

The FEBS Journal, EarlyView.
In Huh7 cells, HIF‐1α is essential as it maintains the expression of proteins involved in glycolysis and steroid/cholesterol biosynthesis both under normoxia and hypoxia. On the other hand, in HeLa cells, these pathways are induced by HIF‐1α only under hypoxia.
Ioanna‐Maria Gkotinakou, Christina Arseni, Kreon Koukoulas, Martina Samiotaki, George Panayotou, George Simos, Ilias Mylonis   +6 more
wiley   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

GCN2 in proteostasis: structural logic, signalling networks and disease

The FEBS Journal, EarlyView.
Threats to protein synthesis activate the kinase GCN2, initiating the integrated stress response (ISR). GCN2 is triggered by stalled ribosomes and uncharged tRNAs, which accumulate when amino acids are scarce. The ISR adjusts cellular physiology by promoting redox balance, protein quality control, and mitochondrial optimisation.
JiaYi Zhu, Stefan J. Marciniak
wiley   +1 more source