Results 71 to 80 of about 9,009 (166)

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences

Cells
The human GBA1 gene encodes lysosomal acid β-glucocerebrosidase, whose activity is deficient in Gaucher disease (GD). In Drosophila, there are two GBA1 orthologs, Gba1a and Gba1b, and Gba1b is the bona fide GCase encoding gene.
Aparna Kuppuramalingam, Or Cabasso, Mia Horowitz   +2 more
doaj   +1 more source

The Enigmatic Role of GBA2 in Controlling Locomotor Function

Frontiers in Molecular Neuroscience, 2017
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide.
Marina A. Woeste, Dagmar Wachten, Dagmar Wachten   +2 more
doaj   +1 more source

Maternal and Fetal Outcomes in Imiglucerase‐Treated Patients With Gaucher Disease: Real‐World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
This graphical abstract highlight the real‐world maternal and fetal outcomes in imiglucerase‐treated patients with Gaucher disease from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub‐Registry. ABSTRACT Untreated women with Gaucher disease (GD) are at an increased risk of GD‐related complications during pregnancy ...
Shoshana Revel‐Vilk, Patrick Deegan, Debra Day‐Salvatore, Ozlem Goker‐Alpan, Eugen Mengel, Julie L. Batista, Jenny L. Carwile, Gabriela Perichon, Can Ficicioglu   +8 more
wiley   +1 more source

Synthesis and Biological Properties of Fungal Glucosylceramide

PLoS Pathogens, 2014
Sphingolipids have recently emerged as key regulators of pathogenicity in a variety of fungi. Glucosylceramide is a sphingolipid important for fungal cell division, alkaline tolerance, hyphal formation, and spore germination and, thus, for the regulation of fungal virulence. Present in many fungi, including yeasts, molds, and in dimorphic fungi, fungal
Maurizio Del Poeta, Leonardo Nimrichter, Marcio L Rodrigues, Chiara Luberto   +3 more
openaire   +4 more sources

Trans‐Omics Integration Reveals That the Kidney Contributes to Systemic Aging via Sexually Dimorphic Accumulation of Glycosphingolipids

MedComm, Volume 7, Issue 3, March 2026.
Female‐specific renal GluCer accumulation disrupts mitochondrial quality control via a conserved purine‐mTORC1 pathway, triggering a wave of uremic toxins into the systemic circulation that constitutes a female‐biased vulnerability toward renal‐driven multiorgan senescence.
Zhen Ni, Chenyin Cao, Yanlin Tian, Jinming Mu, He Tian, Zehua Wang, Shaohua Zhang, Mingjun Cao, Yuntian Yang, Wei Ling Florence Lim, Jingkang Cui, Huan Sun, Huan Miao, Yuan Wang, Jie Du, Timothy Kwok, Huan Chen, Sin Man Lam, Guanghou Shui   +18 more
wiley   +1 more source

Simultaneous quantification of lyso-neutral glycosphingolipids and neutral glycosphingolipids by N-acetylation with [3H]acetic anhydride

Journal of Lipid Research, 2003
We describe a new method that permits quantification in the pmol to nmol range of three lyso-neutral glycosphingolipids (lyso-n-GSLs), glucosylsphingosine (GlcSph), galactosylsphingosine (GalSph), and lactosylsphingosine, in the same sample as neutral ...
Jacques Bodennec, Selena Trajkovic-Bodennec, Anthony H. Futerman   +2 more
doaj   +1 more source

Direct‐to‐Biology: Streamlining the Path From Chemistry to Biology in Drug Discovery

ChemMedChem, Volume 21, Issue 4, 25 February 2026.
Crude yet clever: Direct‐to‐biology workflows exploit nanoscale synthesis and plate‐based assays to accelerate hit discovery, save precious intermediates, and rethink early drug discovery. Direct‐to‐biology (D2B) has emerged as a transformative concept in early drug discovery, defined by the direct on‐target screening of crude reaction mixtures without
Ariane F. Hübner, Fabian Barthels
wiley   +1 more source

Optical manipulation of sphingolipid biosynthesis using photoswitchable ceramides

eLife, 2019
Ceramides are central intermediates of sphingolipid metabolism that also function as potent messengers in stress signaling and apoptosis. Progress in understanding how ceramides execute their biological roles is hampered by a lack of methods to ...
Matthijs Kol, Ben Williams, Henry Toombs-Ruane, Henri G Franquelim, Sergei Korneev, Christian Schroeer, Petra Schwille, Dirk Trauner, Joost CM Holthuis, James A Frank   +9 more
doaj   +1 more source

Drug resistance-associated changes in sphingolipids and ABC transporters occur in different regions of membrane domains

Journal of Lipid Research, 2005
We have recently shown that two ATP binding cassette (ABC) transporters are enriched in Lubrol-resistant noncaveolar membrane domains in multidrug-resistant human cancer cells [Hinrichs, J. W. J., K. Klappe, I. Hummel, and J. W. Kok. 2004.
John W.J. Hinrichs, Karin Klappe, Manon van Riezen, Jan W. Kok   +3 more
doaj   +1 more source