Results 271 to 280 of about 70,942 (317)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens +4 more
wiley +1 more source
Isolation of Sialic Acid 9-Phosphatase from Human Erythrocytes
, 1964 George W. Jourdian +3 more
openalex +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
The Role of Macrophages in Cancer: From Basic Research to Clinical Applications
MedComm, Volume 7, Issue 1, January 2026.Monocytes infiltrate the tumor microenvironment (TME) and differentiate into macrophages, which polarize into proinflammatory, antitumor M1 cells or immunosuppressive, protumor M2 cells. Within the TME, M2‐type tumor‐associated macrophages (TAMs) predominate and drive tumor growth, angiogenesis, and metastasis. Therapeutic strategies therefore focus on
Zhimei Liu +5 more
wiley +1 more source
Glycopolymers stabilize protein folding and protein–protein interactions via enthalpic interactions
Protein Science, Volume 35, Issue 1, January 2026.Abstract Macromolecular crowding is ubiquitous in physiological environments, perturbing the thermodynamics and kinetics of proteins via excluded volume and nonspecific chemical interactions. While crowding has been well studied in vitro and in cells, the inert sugar polymers used to simulate crowding lack the chemical characteristics of biomolecules ...
Sabrina M. Richter +2 more
wiley +1 more source
Exosome‐Based Cartilage‐Targeted Delivery System: Strategies and Applications
Small Science, Volume 6, Issue 1, January 2026.Construction strategies and applications of cartilage‐targeting exosomes. With the ageing of the global population, cartilage‐related diseases, such as osteoarthritis (OA) and intervertebral disc degeneration (IVDD), have increasingly become significant social problems threatening human health. Therefore, targeted therapy for cartilage is becoming more
Yao Wang +3 more
wiley +1 more source