Results 81 to 90 of about 62,873 (218)
Background-deflection Brillouin microscopy reveals altered biomechanics of intracellular stress granules by ALS protein FUS [PDF]
, 2018 Altered cellular biomechanics have been implicated as key photogenic triggers in age-related diseases. An aberrant liquid-to-solid phase transition, observed in in vitro reconstituted droplets of FUS protein, has been recently proposed as a possible ...
Antonacci, Giuseppe +3 more
core +3 more sources
The Role of Genetics in Stroke Risk and Outcome: A Review of Current Evidence
Brain and Behavior, Volume 15, Issue 10, October 2025.This study delineates the multiple pathways leading to stroke, encompassing genetic risk factors such as lipid/cholesterol metabolism, blood pressure regulation genes, and endothelial dysfunction. The report includes genetic pathways such as Val66Met polymorphism, prothrombin G20210A, interleukin‐6 and tumor necrosis factor gene variant, along with ...
Mega Obukohwo Oyovwi +3 more
wiley +1 more source
MedComm, Volume 6, Issue 10, October 2025.This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li +7 more
wiley +1 more source
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
A Dose‐Tailored Anti‐Plasma Cell Regimen Lowers the Mortality of Late‐Stage Cardiac Amyloidosis
MedComm, Volume 6, Issue 7, July 2025.The present study was designed to assess the efficacy and safety of a dose‐tailored BD regimen and a dose‐tailored DBD regimen in patients with LCCA at Mayo Stage III. Both the two regimens markedly increased survival rate and time in those patients and the dose‐tailored DBD regimen was superior to the dose‐tailored BD regimen in both efficacy and ...
Yun Ti +8 more
wiley +1 more source
Turkish Journal of Internal Medicine, 2020 Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report [PDF]
, 2012 Background: Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids
Albeggiani, G +7 more
core +2 more sources
Cardiac Involvement in Anderson-Fabry Disease [PDF]
Journal of the American Society of Nephrology, 2002 Anderson-Fabry disease results from hereditary deficiency of the lysosomal enzyme -galactosidase A. This disease is marked by progressive intracellular accumulation of globotriaosylceramide (Gb3) and digalactosylceramide, the major glycosphingolipid substrates of -galactosidase A.
Christoph, Kampmann +3 more
openaire +2 more sources
Food Risk Assess Europe, Volume 3, Issue 3, July 2025.Abstract The Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) has carried out an updated review of the scientific evidence on the influence of climate change on the transmission of foodborne pathogens. This global phenomenon represents an emerging threat to food safety and public health, since alterations in weather ...
Antonio Valero Díaz +6 more
wiley +1 more source
Senza una multidisciplinarietà organizzata
Giornale di Clinica Nefrologia e Dialisi, 2017 non disponibile (aiaf)
Roberto Fanelli +4 more
doaj +1 more source