Results 71 to 80 of about 3,748 (212)

Sphingolipids as emerging mediators in retina degeneration [PDF]

, 2019
The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber, Rotstein, Nora Patricia, Simon, Maria Victoria, Vera, Marcela Sonia   +3 more
core   +1 more source

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, Volume 16, Issue 5, Page 857-869, May 2026.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses

Journal of Lipid Research, 2018
Glycosyl hydrolases (GHs) are carbohydrate-active enzymes that hydrolyze a specific β-glycosidic bond in glycoconjugate substrates; β-glucosidases degrade glucosylceramide, a ubiquitous glycosphingolipid.
Fredj Ben Bdira, Marta Artola, Herman S. Overkleeft, Marcellus Ubbink, Johannes M.F.G. Aerts   +4 more
doaj   +1 more source

Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles. [PDF]

PLoS Genetics, 2018
Mutations in the glucosylceramidase beta (GBA) gene are strongly associated with neurodegenerative diseases marked by protein aggregation. GBA encodes the lysosomal enzyme glucocerebrosidase, which breaks down glucosylceramide.
Ruth E Thomas, Evelyn S Vincow, Gennifer E Merrihew, Michael J MacCoss, Marie Y Davis, Leo J Pallanck   +5 more
doaj   +1 more source

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

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians [PDF]

, 2017
Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience
Belmatoug, N, Bembi, B, Deegan, P, Di Rocco, M, Elstein, D, Göker-Alpan, Ö, Hughes, D, Kuter, DJ, Lukina, E, López, JP, Mehta, A, Mengel, E, Nakamura, K, Panahloo, Z, Pastores, GM, Schwartz, I, Serratrice, C, Szer, J, Zimran, A   +18 more
core   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, Volume 56, Issue 5, Page 832-848, May 2026.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

A double-hit in vivo model of GBA viral microRNA-mediated downregulation and human alpha-synuclein overexpression demonstrates nigrostriatal degeneration

Neurobiology of Disease, 2022
Preclinical and clinical studies support a strong association between mutations in the GBA1 gene that encodes beta-glucocerebrosidase (GCase) (EC 3.2.1.45; glucosylceramidase beta) and Parkinson's disease (PD).
Alexia Polissidis, Effrosyni Koronaiou, Georgia Nikolopoulou, Catherine Viel, Maria Nikatou, Marios Bogiongko, S. Pablo Sardi, Maria Xilouri, Kostas Vekrellis, Leonidas Stefanis   +9 more
doaj   +1 more source

Differential Quantitative Proteomics of Human Microvascular Endothelial Cells 1 by iTRAQ Reveals Palladin to be a New Biomarker During TGF-β1 Induced Endothelial Mesenchymal Transition [PDF]

, 2017
The study uses global quantitative proteomics to investigate the molecular mechanisms behind the induction of endothelial-mesenchymal transition (EndMT) by transforming growth factor–β (TGF-β).
Bednarek, Radosław, Gawryś, Katarzyna, Popielarsk, Marcin, Sitkiewicz, Ewa, Stasiak, Marta, Studzian, Maciej, Swiatkowska, Maria, Szemraj, Janusz   +7 more
core   +1 more source