Results 191 to 200 of about 114,325,321 (319)

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients. [PDF]

Int J Mol Sci
Duro G, Anania M, Zizzo C, Francofonte D, Giacalone I, D'Errico A, Marsana EM, Colomba P.   +7 more
europepmc   +1 more source

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. [PDF]

BMC Bioinformatics, 2018
Cimmaruta C, Citro V, Andreotti G, Liguori L, Cubellis MV, Hay Mele B.   +5 more
europepmc   +1 more source

Engineered Exosomal miR‐146a‐5p Reprograms BMSC Fate and Restores Mitochondrial Homeostasis in Glucocorticoid‐Induced Osteonecrosis of Femoral Head

Advanced Science, Volume 13, Issue 49, 3 September 2026.
Exosomal miR‐146a‐5p is identified as a pivotal regulator in steroid‐induced osteonecrosis. Its reduction activates NF‐κB signaling, compromises mitophagy, and disrupts mitochondrial bioenergetics, resulting in autophagic disequilibrium. Engineered exosomes delivering miR‐146a‐5p reinstate mitochondrial function, augment oxidative phosphorylation and ...
Zehui Lv, Xuejie Cai, Yiming Xu, Xingdong Yang, Ruoying Wang, Han Wang, Yixin Bian, Jiawei Xu, Jiao Lu, Lulu Liu, Yingjie Wang, Jibin Song, Bin Feng, Xisheng Weng   +13 more
wiley   +1 more source

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Proceedings of the National Academy of Sciences of the United States of America, 1979
R. Desnick, K. J. Dean, G. Grabowski, D. Bishop, C. C. Sweeley   +4 more
semanticscholar   +1 more source

Molecular Mobility of N‐Acetylgalactosamine‐Modified Cyclodextrins on a Polyrotaxane for Highly Efficient Liver Targeting of Antibody Chimeras and Genome‐Editing Ribonucleoproteins

Advanced Science, Volume 13, Issue 49, 3 September 2026.
Monovalent N‐acetylgalactosamine (GalNAc)‐modified polyrotaxane enables efficient liver targeting by utilizing ligand mobility. The sliding and rotating cyclic components i.e., cyclodextrin in the polyrotaxane dynamically cluster GalNAc moieties, thereby mimicking trivalent interactions with asialoglycoprotein receptors.
Toru Taharabaru, Keiichi Motoyama, Yuting Wen, Zhongxing Zhang, Xuehao Tian, Jun Li, Taishi Higashi   +6 more
wiley   +1 more source

Diagnostic potential of B‐cell translocation gene 2 in IgA nephropathy: Insights from molecular mechanisms

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
Diagnostic value of BTG2 and its immunoregulatory mechanism in IgAN. This study reveals that BTG2 improves immune microenvironment dysregulation, attenuates inflammation, and reduces fibrosis by promoting the expansion of T follicular helper cells, inducing macrophage polarization toward an M2 anti‐inflammatory phenotype, and inhibiting the TGF‐β1 ...
Min Kou, Mo Dan, Juan Cheng, Sheng Ge, Ruimin Ren   +4 more
wiley   +1 more source

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease. [PDF]

PLoS One, 2017
Hofmann L, Karl F, Sommer C, Üçeyler N.   +3 more
europepmc   +1 more source

Soil Microbial Assembly Mirrors a Savanna Mosaic Amid Plant Invasion and Soil Disturbance

Ecology and Evolution, Volume 16, Issue 9, September 2026.
Grasslands and woody patches supported distinct soil and microbial assemblages, consistent with differences in vegetation inputs and nutrient regimes. Grasslands exhibited relatively simple assembly patterns, with plant diversity closely associated with soil nutrients and comparatively homogeneous microbial communities.
Elizabeth A. Bowman, A. Peyton Smith, Aaron C. Rhodes, Robert M. Plowes, Lawrence E. Gilbert   +4 more
wiley   +1 more source

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.

JIMD Reports, 2013
M. Niemann, A. Rolfs, Anne Giese, H. Mascher, F. Breunig, G. Ertl, C. Wanner, F. Weidemann   +7 more
semanticscholar   +1 more source

Fucoxanthin Attenuates Hepatic Damage in a d‐Galactose‐Induced Accelerated Aging Mouse Model: Insight Into Underlying Mechanisms

Food Frontiers, Volume 7, Issue 5, September 2026.
Fucoxanthin alleviates d‐galactose‐induced hepatic damage by reducing oxidative stress, inflammation, and multiple programmed cell death pathways. ABSTRACT The global population is aging rapidly, and aging‐related hepatic damage poses a significant public health challenge.
Han‐Ni Wei, Cheng‐Yu Yang, Hui Li, Shi‐Xiang Wu, Qing‐Yan Zou, Yan Zheng, Kazuo Miyashita, Yu‐Hong Yang, Lei Du   +8 more
wiley   +1 more source