Results 131 to 140 of about 4,732,768 (313)

Oligodendrocyte precursor cells–microglia crosstalk via BMP4 drives microglial neuroprotective response and mitigates Alzheimer’s disease

Signal Transduction and Targeted Therapy
Oligodendrocyte precursor cells (OPCs) rapidly respond to neural injury, becoming activated to preserve myelin homeostasis and interacting with diverse cell types in the central nervous system (CNS). However, the molecular basis of OPC communication with
Soonbong Baek, Jaemyung Jang, Seungeun Yeo, Hyun Jin Jung, Youngshik Choe   +4 more
doaj   +1 more source

In silico and in vitro exploration of a tyrosinase for biocatalytic production of catechols

FEBS Open Bio, EarlyView.
Tyrosinase from Ralstonia pseudosolanacearum is a promising biocatalyst for producing valuable catechols from monophenol substrates. This tyrosinase is uniquely suited to this due to its high monophenolase : diphenolase ratio. We combined in silico docking and in vivo kinetic characterisation of this tyrosinase with 11 industrially relevant monophenols,
James Britton, Fang Zhao, Reeta Davis, Meg Walsh, Kevin E O'Connor, David O'Connell, Tanja Narancic   +6 more
wiley   +1 more source

From patient advocacy to patient‐driven research: Building active partnerships beginning at the bench to reach the bedside

FEBS Open Bio, EarlyView.
Research is strongest when conducted alongside patients, not just about them. Patient research organizations help integrate patient perspectives into research priorities, study design, and scientific meetings, leading to meaningful patient outcomes and development of relevant therapies.
Jenica H. Kakadia, Rachel Heilmann, Maximiliano Barrientos, Laura MacNeill, Ingrid Vallee, Sarah K. Schultz, Patrick O'Donoghue, Angelica A. Moresco, Victoria M. Siu, Ilka U. Heinemann   +9 more
wiley   +1 more source

Model of Care for Transition from Paediatric to Adult Healthcare Providers in Rare Diseases

, 2018
For rare diseases in Ireland, collaboration across various healthcare settings is key given the nature of national services and expertise. This requires system-level solutions which address the alignment of providers in multiple settings, with ...
National Clinical Programme for Rare Diseases
core  

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

2. Congress on rare diseases. Genetic disorders related to dysfunction of cellular organelles Abstract book

, 2000
The aim of the Congress is to present public health problems related to the increasing developments of genetic research, with particular regard to rare diseases.
Istituto Superiore di Sanita', Rome (Italy)
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Longitudinal deep multi-omics profiling in a CLN3 Δex7/8 minipig model identifies biomarker signatures of disease

Communications Medicine
Background Development of therapies for CLN3 disease, a rare pediatric lysosomal storage disorder, has been hindered by the lack of etiological insights and translatable biomarkers to clinics. Methods We used a deep multi-omics approach to discover blood-
Mitchell J. Rechtzigel, Brittany Lee, Christine Neville, Ting Huang, Ramón Díaz, Alex Rosa Campos, Khatereh Motamedchaboki, Daniel Hornburg, Tyler B. Johnson, Vicki J. Swier, Jill M. Weimer, Jon J. Brudvig   +11 more
doaj   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source