Results 71 to 80 of about 10,790 (159)

Sequestosome 1: Mutation Frequencies, Haplotypes, and Phenotypes in Familial Paget's Disease of Bone

Journal of Bone and Mineral Research, 2006
Abstract Mutations of the SQSTM1/p62 gene are commonly observed in PDB. Screening an updated sample from Quebec and using previously published data from other populations, we compared frequency estimates for SQSTM1/p62 mutations and haplotype distribution.
Jean, Morissette, Nancy, Laurin, Jacques P, Brown   +2 more
openaire   +2 more sources

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease [PDF]

Human Molecular Genetics, 2002
Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased and disorganized bone turnover. Genetic factors are important in the pathogenesis of PDB, and in previous studies, we and others identified a locus for familial PDB by genome-wide search on 5q35-qter (PDB3). The gene encoding sequestosome 1 (SQSTM1/p62)
Hocking, Lynne J., Lucas, Gavin J. A., Daroszewska, Anna, Mangion, Jon, Olavesen, Mark, Cundy, Tim, Nicholson, Geoff C., Ward, Lynley, Bennett, Simon T., Wuyts, Wim, Van Hul, Wim, Ralston, Stuart H.   +11 more
openaire   +6 more sources

Time‐Controlled Refrigerated Stem Cell Therapy Mitigates Scleroderma Fibrosis via Modulation of Mitochondrial Autophagy and Gut Metabolism

Advanced Science, Volume 13, Issue 34, 19 June 2026.
This study established an RT‐MSCs‐based therapeutic approach for scleroderma in mice. RT‐MSCs attenuated fibrosis by regulating mitochondrial autophagy and restored gut microbiota homeostasis. Metabolomic analyses confirmed recovery of key metabolites, and RT‐MSCs demonstrated favorable lesion targeting and safety profiles.
Xue Xia, Chenfei Kong, Xiaoming Zhao, Naixu Shi, Jinlan Jiang, Ping Li   +5 more
wiley   +1 more source

Highly Active Cu14 Cluster Precisely Activates Autophagy Inhibitor to Amplify Cuproptosis Immunotherapy

Advanced Science, Volume 13, Issue 33, 15 June 2026.
An atomically precise Cu14 cluster‐mediated bond scission reaction pioneers the amplification of the antitumor immune response via synergetic cuproptosis‐associated immunogenic cell death induction and in situ autophagy blockade. ABSTRACT Transition metal‐mediated cleavage mechanisms have emerged as an effective means to mitigate the off‐target ...
Qiu‐Xu Zang, Wei‐Tong Chen, Yu‐Ying Shen, Zhao‐Yang Wang, Kai Li, Xueli Zhao, Yanjuan Sang, Xiaoyuan Chen, Shuang‐Quan Zang   +8 more
wiley   +1 more source

The Role of N6‐Methyladenosine Modification in Health and Disease

MedComm, Volume 7, Issue 6, June 2026.
N6‐methyladenosine (m6A) is the most prevalent internal RNA modification in eukaryotes, acting as a pivotal epitranscriptomic regulator of RNA metabolism. This modification plays a dual role: it maintains physiological homeostasis under normal conditions but drives disease progression when dysregulated.
Linghuan Li, Yuanhai Sun, Wanfang Zheng, Lingqin Li, Yaqian Feng, Minyou Qi, Hanbing Li   +6 more
wiley   +1 more source

The Dual Role of Autophagy in Cancer: Mechanisms and Therapeutic Strategies

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Autophagy is a conserved cellular process degrading dysfunctional organelles and protein aggregates to maintain cell homeostasis, and it exhibits context‐dependent duality in cancer. Autophagy functions as a critical tumor‐suppressive mechanism by preventing DNA damage and mutation during tumor initiation.
Xiang‐Zheng Gao, Yuheng Qin, Haoyu Wan, Guang Lu, Han‐Ming Shen   +4 more
wiley   +1 more source

The selective autophagic degradation of avian metapneumovirus subgroup C M2-2 protein via SQSTM1 suppresses viral replication

Autophagy Reports
Avian metapneumovirus subgroup C (aMPV/C) is an emerging pathogen that causes acute respiratory infection in chickens and turkeys. Sequestosome 1 (SQSTM1), a selective autophagy receptor, regulates cellular activity or viral replication by recognizing ...
Lei Hou, Jinshuo Guo, Jianwei Zhou, Jue Liu   +3 more
doaj   +1 more source

YOD1/TRAF6 association balances p62-dependent IL-1 signaling to NF-κB

eLife, 2017
The ubiquitin ligase TRAF6 is a key regulator of canonical IκB kinase (IKK)/NF-κB signaling in response to interleukin-1 (IL-1) stimulation. Here, we identified the deubiquitinating enzyme YOD1 (OTUD2) as a novel interactor of TRAF6 in human cells.
Gisela Schimmack, Kenji Schorpp, Kerstin Kutzner, Torben Gehring, Jara Kerstin Brenke, Kamyar Hadian, Daniel Krappmann   +6 more
doaj   +1 more source

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, Volume 4, Issue 2, Page 111-130, June 2026.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source

Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis

Acta Neuropathologica Communications, 2018
Muscle atrophy with weakness is a core feature of amyotrophic lateral sclerosis (ALS) that has long been attributed to motor neuron loss alone. However, several studies in ALS patients, and more so in animal models, have challenged this assumption with ...
Matthew D. Cykowski, Suzanne Z. Powell, Joan W. Appel, Anithachristy S. Arumanayagam, Andreana L. Rivera, Stanley H. Appel   +5 more
doaj   +1 more source