Results 71 to 80 of about 36,164 (207)

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

ADAM17 and its proteolytic targets in disease pathogenesis

The FEBS Journal, EarlyView.
ADAM17 as a multifunctional sheddase with contrasting roles across inflammatory, metabolic, cardiovascular, and neoplastic diseases. Through regulated activation by iRhom, iTAP/FRMD8, and tetraspanins, ADAM17 cleaves diverse membrane ligands and receptors, thereby promoting inflammation, fibrosis, obesity, insulin resistance, and tumor progression ...
Abdulbasit Amin, Marina Badenes
wiley   +1 more source

1H NMR metabolomics and lipidomics analysis of neutrophils reveals biomarkers of ageing, inflammageing and frailty

The FEBS Journal, EarlyView.
Using 1H NMR metabolomics, we measured polar and lipid metabolites from human blood neutrophils from people with frailty (n = 31, mean age 84Y), people with rheumatoid arthritis (n = 16, mean age 55Y), robust older (n = 24, mean age 66Y) and healthy younger people (n = 21, mean age 22Y).
Genna Ali Abdullah, Grace Filbertine, Lucy Gill, Asangaedem Akpan, Marie M. Phelan, Helen Louise Wright   +5 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

The sorting nexin Snx21 promotes flotillin‐mediated endocytosis

The FEBS Journal, EarlyView.
In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs, Enikő Lakatos, Dalma Feil‐Börcsök, Gábor Juhász, Regina Mező, Asha Kiran Maddali, András Blastyák, Aladár Pettkó‐Szandtner, Hajnalka Laczkó‐Dobos, Gábor Juhász   +9 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Systemic, Lifestyle and Environmental Modifying Factors in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
A variety of impacting factors in the pathogenesis of periodontitis exist, including systemic, lifestyle, and environmental factors. This review highlights the manifold mechanistic aspects of the link between the pathogenesis of periodontitis, addressing these numerous factors to supplement the long‐standing knowledge of the progression of the disease.
Sabine Elisabeth Groeger, Yuxi Zhou, Jiawen Yong, Lei Wang, Sabine Ruf, Joerg Meyle   +5 more
wiley   +1 more source

The Role of Oxidative Stress in Periodontitis

Journal of Periodontal Research, EarlyView.
Oxidative stress is involved in multiple chemical reactions that take place in different intracellular organelles: mitochondria, rough endoplasmic reticulum, peroxisomes, autophagy, and aging, and can be influenced by exogenous factors: nutrition, physical activity, psychological status, environmental conditions, microbiome, and drugs.
Pedro Bullon, Francesca Giampieri, Beatriz Bullon, Maurizio Battino   +3 more
wiley   +1 more source

Bone Grafts: Everything You Need to Know

Journal of Periodontal Research, EarlyView.
This review classifies bone grafts (autograft, allograft, xenograft, synthetic) by source and osteogenic/inductive/conductive potential, linking material properties and mechanisms to clinical indications in periodontal and dental regeneration. Key challenges—limited osteoinduction, poor vascularisation, unbalanced resorption, handling difficulties, and
Håvard Jostein Haugen, Javier Sanz, Giuseppe Perale, Augustine Mark Saiz, Mario Romandini, Maryam Rahmati   +5 more
wiley   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source