Results 71 to 80 of about 32,322,339 (203)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue [PDF]

, 2021
Patients with cystic fibrosis (CF) harboring the P67L variant in the cystic fibrosis transmembrane conductance regulator (CFTR) often exhibit a typical CF phenotype, including severe respiratory compromise. This rare mutation (reported in
Sabusap, Carleen Mae, Joshi, Disha, Simhaev, Luba, Oliver, Kathryn E., Sub Cellular Protein Chemistry, Senderowitz, Hanoch, Sorscher, Eric J., Hong, Jeong S., van Willigen, Marcel, Braakman, Ineke, Cellular Protein Chemistry, Rab, Andras   +11 more
core   +2 more sources

Palmitic acid-triggered B7H3 palmitoylation promotes immune escape

Nature Communications
Colorectal cancer responds poorly to immune checkpoint blockade in most patients with microsatellite-stable (MSS) tumors, highlighting the need for alternative targets.
Zejun Rao, Changsheng Huang, Qi Wu, Mao Li, Anyi Liu, Tong Zhu, Wangshuo Yang, Lanlan Yin, Shengyu Zhu, Xiaowei She, Chengxin Yu, Lang Liu, Pengcheng Li, Yucong Bai, Dongjing Zhang, Tianci Xie, Xiang Liu, Lu Liu, Feng Xu, Guihua Wang, Junbo Hu, Xuelai Luo   +21 more
doaj   +1 more source

Targeting KRAS for cancer therapy

British Journal of Pharmacology, EarlyView.
In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia, Ruonan Liu, Tonia A. Adamide, Isis E. Fernandez, Georgios T. Stathopoulos   +4 more
wiley   +1 more source

Biomarkers Correlating With the Development of Oral Squamous Cell Carcinoma From Leukoplakia

Oral Diseases, EarlyView.
ABSTRACT Background We assessed protein biomarkers expressed in oral leukoplakia (OL) that are associated with the risk of transformation into oral squamous cell carcinoma (OSCC). Methods Tissue sections of OL transforming into OSCC (leuko‐ca), the corresponding OSCC and OL that did not progress to OSCC (leuko‐nonca) were analyzed with global relative ...
Daniel Giglio, Divya Ganesh, Bishwa Prakash Bhattarai, Tine Merete Søland, Jonas Sundberg, Annika Thorsell, Jenny Öhman, Dipak Sapkota, Bengt Hasséus   +8 more
wiley   +1 more source

p62/Sequestosome 1 Regulates Aggresome Formation of Pathogenic Ataxin-3 with Expanded Polyglutamine

, 2014
The cellular protein quality control system in association with aggresome formation contributes to protecting cells against aggregation-prone protein-induced toxicity. p62/Sequestosome 1 (p62) is a multifunctional protein which plays an important role in
Guanghui Wang, Hongfeng Wang, Liang Zhou, Dong Chen, Feng Gao, Zheng Ying   +5 more
core   +1 more source

One day of environment‐induced heat stress causes injury to the murine kidney

Experimental Physiology, EarlyView.
Abstract Environment‐induced heat stress (EIHS) results from sustained body temperature elevation owing to prolonged exposure to heat and humidity. We hypothesized that EIHS would cause kidney injury and cellular dysfunction. To test this hypothesis, female C57 mice were exposed to EIHS (n = 14; 37.6°C, 42.0% relative humidity) or thermoneutral (TN ...
Melissa Roths, Alyona Michael, Zachary J. Schlader, Joshua T. Selsby   +3 more
wiley   +1 more source

Inhibition of HIV-1 replication by small interfering RNAs directed against Glioma Pathogenesis Related Protein (GliPR) expression [PDF]

, 2010
Background: Previously, we showed that glioma pathogenesis related protein (GliPR) is induced in CEM T cells upon HIV-1 infection in vitro. To examine whether GliPR plays a role as HIV dependency factor (HDF), we tested the effect of GliPR suppression by
Scheuring Urban J, Oliver G Ottmann, Dietrich, Ursula, Capalbo Gianni, Scheuring, Urban J., Ursula Dietrich, Ottmann, Oliver G., Dietrich Ursula, Gianni Capalbo, Urban J Scheuring, Hoelzer, Dieter (Prof. Dr.), Müller-Kuller Thea, Hoelzer Dieter, Ottmann Oliver G, Dieter Hoelzer, Thea Müller-Kuller, Capalbo, Gianni, Müller-Kuller, Thea   +17 more
core   +1 more source

Posttranslational Modifications of p62/SQSTM1 in Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Schematic illustration of p62 as a posttranslational modifications (PTMs)‐programmed integrator in homeostasis, pathogenesis, and therapeutic targeting. (Left) Homeostasis: In physiological states, p62, through various PTMs such as phosphorylation, ubiquitination, and acetylation, coordinates essential cellular functions.
Weikai Wang, Xin Jiang, Runing Qiu, Chandra Sugiarto Wijaya, Miaoqin Chen, Jin Wang, Liyuan Zhu, Hongchuan Jin, Lifeng Feng   +8 more
wiley   +1 more source

An artificial immune system for clustering amino acids in the context of protein function classification [PDF]

, 2009
This paper addresses the classification task of data mining (a form of supervised learning) in the context of an important bioinformatics problem, namely the prediction of protein functions.
Timmis, Jon, Clark, Edward, Flower, Darren R., Secker, Andrew D., Davies, Matthew N., Freitas, Alex A.   +5 more
core   +1 more source