Results 111 to 120 of about 118,748,616 (241)

Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease?

Brazilian Journal of Nephrology
Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene,
Gilson Biagini, Ana Clara Simões Flórido Almeida, Tammy Vernalha Rocha Almeida, Cassiano Augusto Braga Silva, Bruna Fernanda de Castro, Tais Cristina Reche, Ana Cláudia Dabinski, Fellype Carvalho Barreto   +7 more
doaj   +1 more source

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease. [PDF]

Int J Mol Sci, 2023
Monticelli M, Hay Mele B, Allocca M, Liguori L, Lukas J, Monti MC, Morretta E, Cubellis MV, Andreotti G.   +8 more
europepmc   +1 more source

Species Dynamics and Gene Expression in Algal Polycultures Under Mixotrophic Cultivation in Outdoor Pilot‐Scale Nordic Conditions

Biotechnology and Bioengineering, EarlyView.
These results demonstrate that mixotrophic conditions drive both microbial community shifts and metabolic reprogramming, underscoring the importance of cultivation strategy and polyculture selection for targeted applications such as nutrient recovery and bioproduct generation.
Quyen Nham, Hanna Farnelid, Catherine Legrand, Elin Lindehoff   +3 more
wiley   +1 more source

Tackling cancer stemness with nanotechnology in the era of precision medicine

BMEMat, EarlyView.
Precise customization of nanoparticles (NPs) enables active targeting of cancer stem cells (CSCs), thereby improving drug delivery and therapeutic efficacy. NP‐based probing enhances CSC detection through imaging and liquid biopsy, whereas diverse therapeutic payloads improve therapeutic outcomes.
Shaolei Guo, Shun Yao, Lihui Meng, Chunyuan Chen, Yuechu Lucinda Lu, Rong Lu, Kashif Rafiq Zahid, Umar Raza, Qingzhi Wu, Wenli Chen   +9 more
wiley   +1 more source

Intra-Laboratory Validation of Alpha-Galactosidase Activity Measurement in Dietary Supplements. [PDF]

Molecules, 2021
Fabris E, Bulfoni M, Nencioni A, Nencioni E.   +3 more
europepmc   +1 more source

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source

Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man

, 2011
Objectives: To evaluate the nature of the molecular lesions in the alpha-galactosidase A gene of two patients having Fabry ...
Hatice Asuman Ozkara, CELTIKCI, BAŞAK, Meral Topçu, ÖZKARA, HATİCE ASUMAN, Basak Celtikci, TOPÇU, MERAL   +5 more
core   +1 more source

Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH)

BMC Nephrology
Background and hypothesis Fabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1].
K.P. Ng, M. Sandhu, D. Banerjee, J.O. Burton, L. Crowley, T. Doulton, M.A. Hameed, R. Hamer, M. Menon, J. Nicholas, S.B. Ramakrishna, K. Shivakumar, T. Geberhiwot, I. Dasgupta   +13 more
doaj   +1 more source

Fluorinated Iminosugar Glycomimetics: Synthesis and Activity as GCase Ligands

European Journal of Organic Chemistry, EarlyView.
DAST‐mediated deoxyfluorination of suitably functionalized piperidines provided regio‐ and stereoselective access to fluorinated piperidine and pyrrolidine glycomimetics, the latter arising from an unusual ring‐contraction process. Fluorination generally enhanced β‐glucocerebrosidase (GCase) inhibitory potency, but lost PC activity toward L444P/L444P ...
Francesca Mangiavacchi, Alessio Morano, Cosimo Margheri, Cristina Faggi, Amelia Morrone, Camilla Matassini, Francesca Clemente, Andrea Goti, Martina Cacciarini, Francesca Cardona   +9 more
wiley   +1 more source

Illuminating point‐of‐care diagnostics with aggregation‐induced emission biosensors

FlexMat, EarlyView.
This review highlights the application of aggregation‐induced emission luminogens (AIEgens) in point‐of‐care (POC) diagnostics for disease biomarker detection. It systematically examines a range of biosensing platforms, including lateral flow immunoassays, microfluidic chips, and electrochemiluminescence sensors, alongside their utility in detecting ...
Danni Hu, Yubing Hu, Dong Wang, Ben Zhong Tang   +3 more
wiley   +1 more source