Results 151 to 160 of about 944,231 (329)

ATG4B is required for mTORC1‐mediated anabolic activity and is associated with clinical outcomes in non‐small cell lung cancer

FEBS Open Bio, EarlyView.
The relationship between anabolic and catabolic processes governing lung cancer cell growth is nuanced. We show that ATG4B, an autophagy regulator, is elevated in lung cancer and that high ATG4B is associated with worse patient outcomes. Targeting ATG4B in cells reduces growth, protein synthesis, and mTORC1 activity, demonstrating a new relationship ...
Patrick J. Ryan, Bethany C. Guerra, Selina Uranga, Jessica M. Cardin, Steven E. Riechman, Mariana Janini Gomes, James D. Fluckey   +6 more
wiley   +1 more source

Naked cuticle is essential for Drosophila wing development beyond Wingless signaling

FEBS Open Bio, EarlyView.
Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley   +1 more source

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes

Biomedicines
Background/Objectives: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the DMD gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. Methods:
Katja Neuhoff, Ozge Aksel Kilicarslan, Corinna Preuße, Ann-Kathrin Zaum, Heike Kölbel, Hanns Lochmüller, Ulrike Schara-Schmidt, Kiran Polavarapu, Andreas Roos, Andrea Gangfuß   +9 more
doaj   +1 more source

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum

Journal of Clinical Neurology
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by peripheral neuropathy with or without episodic neurological dysfunction. We performed clinical, neuropathological, and genetic investigations of a series of patients with mutations of the gap-junction beta-1 gene (GJB1) to extend the phenotypic and genetic description of CMTX1 ...
Feixia Zhan, Wotu Tian, Yuwen Cao, Jingying Wu, Ruilong Ni, Taotao Liu, Yun Yuan, Xinghua Luan, Li Cao   +8 more
openaire   +2 more sources

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review

Cells
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD).
Louis Wolff, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, Denis Comte   +4 more
doaj   +1 more source

How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

Genetics in Medicine, 2006
C. James, D. Hadley, N. Holtzman, J. Winkelstein   +3 more
semanticscholar   +1 more source

Hands‐on protocol for preparing water‐soluble fractions from agri‐food samples for NMR‐based metabolomics analysis

FEBS Open Bio, EarlyView.
This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso, Jaime Hiniesta‐Valero, Alejandra Guerra‐Castellano, Miguel A. De la Rosa, Irene Díaz‐Moreno   +4 more
wiley   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging

Translational Neurodegeneration
Neurological disorders present considerable challenges in diagnosis and treatment due to their complex and diverse etiology. Retrotransposons are a type of mobile genetic element that are increasingly revealed to play a role in these diseases.
Wenchuan Zhang, Chenxuan Huang, Haiyang Yao, Shangzhi Yang, Zeyidan Jiapaer, Juan Song, Xianli Wang   +6 more
doaj   +1 more source