Results 71 to 80 of about 25,942 (185)

Bibliometric Analysis of Cubebenes and Related Sesquiterpenes: Natural Occurrence, Biosynthesis, Pharmacological Activities, and In‐Silico‐Based Future Therapeutic Potential

eFood, Volume 7, Issue 3, June 2026.
Cubebene‐related sesquiterpenes, found across diverse biological sources, exhibit promising pharmacological activities, including anti‐inflammatory, neuroprotective, and anticancer effects. This review highlights their molecular diversity, ADME profiles, and predicted multitarget interactions, underscoring their therapeutic relevance and potential in ...
Khadija Boualam, Ahmet B. Ortaakarsu, Sohaib Khatib, Mohamed A. Farag, Mansour Sobeh   +4 more
wiley   +1 more source

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Journal of Medical Case Reports, 2018
Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B.
Abedelmajeed Nasereddin, Suheir Ereqat
doaj   +1 more source

Alterations of intestinal lipoprotein metabolism in diabetes mellitus and metabolic syndrome [PDF]

, 2015
Diabetes and metabolic syndrome are associated with abnormal postprandial lipoprotein metabolism, with a significant delay in the clearance of many lipid parameters, including triglycerides and chylomicrons.
ARCA, Marcello
core   +1 more source

A Cross‐Disease Microglial Transcriptional Program Characterizes Neurodegeneration and Highlights SPP1 as a Biomarker

Glia, Volume 74, Issue 6, June 2026.
Distinct microglial subpopulations are depicted, highlighting variations in gene expression and functional roles in response to specific disease conditions and the complexity of microglial activation and differentiation in neurodegeneration. ABSTRACT Microglial cells are key players in maintaining brain homeostasis and responding to pathological ...
Alessandro Palma, Roberta Stefanelli, Francesco Trenta, Chiara Projetti, Greta Massa, Sonia Canterini, Maria Teresa Fiorenza   +6 more
wiley   +1 more source

Cholesterolomics: An update [PDF]

, 2017
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample.
Alvelius, Alwena H. Morgan, Andersson, Axelson, Bauman, Bazan, Bjorkhem, Bjorkhem, Bjorkhem, Blanc, Byrne, Cobice, Crick, Crick, Davies, de Medina, Diczfalusy, Dzeletovic, Eylan Yutuc, Fakheri, Griffiths, Griffiths, Griffiths, Griffiths, Griffiths, Griffiths, Gustafsson, Hannedouche, Hu, Ian Gilmore, Ikegami, Jiang, Jiang, Jonas Abdel-Khalik, Klinke, Korade, Kotti, Lehmann, Lin, Liu, Liu, Liu, Maioli, Matysik, Mazzacuva, McDonald, McDonald, McDonald, Myers, Nachtergaele, Nedelcu, Nelson, Novakova, Park, Pataj, Porter, Porter, Radhakrishnan, Reboldi, Roberg-Larsen, Roberg-Larsen, Robertson, Russell, Sacchetti, Saeed, Saeed, Santori, Schroepfer, Setchell, Sever, Shinkyo, Sidhu, Silvente-Poirot, Simigdala, Soncini, Soroosh, Stiles, Theofilopoulos, Theofilopoulos, Thomas Hearn, Wassif, Watabe, William J. Griffiths, Wu, Xu, Yuqin Wang, Zhang   +86 more
core   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

Reducing GBA2 activity ameliorates neuropathology in niemann-pick type C mice [PDF]

, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
Aerts, J.M.F.G. (Johannes), Aten, J. (Jan), Boot, R.G. (Rolf), Claessen, N. (Nike), Herrera Moro, D. (Daniela), Lin, Z. (Zhanmin), Marques, A.R.A. (André), Mirzaian, M. (Mina), Ottenhoff, R. (Roelof), Overkleeft, H.S. (Herman), Roomen, C.P.A.A. (Cindy) van, Vinueza Veloz, M.F. (Maria), Yildiz, Y. (Yildiz), Zeeuw, C.I. (Chris) de, Zhou, K. (Kuikui)   +14 more
core   +7 more sources

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Sanaa Abdelmalek Mahmoud, AhmedElmontaser Mergani, Maren von Köckritz‐Blickwede, Hassan Y. Naim   +3 more
wiley   +1 more source

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]

, 2015
Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario, Eichler, Sabrina, Eisa, Nada Al, Giese, Anne-Katrin, Grittner, Ulrike, Kramp, Guido, Lukas, Jan, Mascher, Hermann, Platt, Frances M., Porter, Forbes D., Rolfs, Arndt, Vruchte, Danielle te   +11 more
core   +2 more sources