Results 51 to 60 of about 483,484 (261)

The therapeutic opportunities and pitfalls of using iron ion chelators to treat neurodegenerative diseases

FEBS Letters, EarlyView.
Although too much iron in the brain promotes neurodegeneration, iron ion chelators have had mixed effects in clinical trials. This review explains why; some chelators do not render the iron redox‐inactive (e.g., L1) whereas others do (e.g., desferrioxamine).
Barry Halliwell
wiley   +1 more source

Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models

Acta Neuropathologica Communications
Sandhoff disease (SD) is a subtype of GM2 gangliosidosis caused by pathogenic variants in Hexosaminidase B (HEXB). It most frequently presents in infancy or early childhood, whereas adult-onset disease is rare and remains incompletely characterized. Here,
Yao Tang, Didi Shan, Hongxu Wang, Xinbo Ji, Yichang Jiao, Jianing Li, Zexin Zhan, Shuangwu Liu, Xiaohan Sun, Pengfei Lin, Jingwen Xu, Dongdong Wang, Xiulian Sun, Chuanzhu Yan, Yuying Zhao, Fuchen Liu   +15 more
doaj   +1 more source

iPSC-derived microglia: Decoding roles and therapeutic opportunities in neurodegenerative diseases

Brain Research Bulletin
Microglia originate from erythro-myeloid progenitors (EMPs) in the early embryonic yolk sac and migrate into the developing brain, where they differentiate and mature under the regulation of chemokines, cytokines, and growth factors.
Didi Shan, Hongxu Wang, Jianing Li, Yao Tang, Zexin Zhan, Chuanzhu Yan, Jingwen Xu, Fuchen Liu   +7 more
doaj   +1 more source

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

EBioMedicine, 2020
Background: Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí   +8 more
doaj   +1 more source

An epithelial GPR35 isoform supports tumor‐associated transcriptional and metabolic phenotypes

FEBS Letters, EarlyView.
GPR35 generates two functionally distinct isoforms with previously unresolved roles. GPR35‐short mediates immune‐cell chemotaxis, while GPR35‐long is enriched in colorectal cancer epithelium, where it supports increased metabolism, proliferation, and tumor‐associated transcriptional programs.
Jørgen D. Rønneberg, Martine Hjeltnes, Josephine Krieger, Joshua E. Elias, Maria Stensland, Kristian Holm, Xiaojun Jiang, Chuki Khangsar, Tuula A. Nyman, Arthur Kaser, Johannes R. Hov, Tom H. Karlsen, Nicole C. Kaneider, Frode L. Jahnsen, Georg Schneditz   +14 more
wiley   +1 more source

Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies

Orphanet Journal of Rare Diseases
Background The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for α-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).
Guiguan Yang, Xiaoqing Lv, Wenjing Wu, Guangyu Wang, Mengqi Yang, Yifei Feng, Chuanzhu Yan, Meirong Liu, Pengfei Lin   +8 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

The biology of mitochondrial disease [PDF]

Archives of Disease in Childhood, 2000
Mitochondria are subcellular organelles that constitute a metabolic compartment separated from the general cytoplasm by a double layered membrane. The outer membrane serves to regulate access of proteins and metabolites to the mitochondrial compartment, and the convoluted inner mitochondrial membrane is the site of several multicomponent enzyme systems.
openaire   +2 more sources

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +1 more source