Results 71 to 80 of about 2,629 (119)

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

A gut microbiome‐lipid axis in early pregnancy is associated with metabolic dysregulation and diabetes risk

iMeta, Volume 5, Issue 4, August 2026.
Early‐pregnancy microbiome and lipidome profiling identified a microbiome‐glycosphingolipid axis associated with later gestational diabetes mellitus (GDM) risk. In the prospective pregnancy cohort, women who later developed GDM showed altered gut microbial composition, enriched microbial lipid biosynthesis pathways, and broad plasma lipidomic changes ...
Zhonghan Sun, Chang He, Xiaonan Ma, Ping Wu, Tianlei Wang, Jiaying Yuan, Yanni Pu, Xiaofeng Zhou, Zhendong Mei, Huiling Song, Yetong Wang, Haiyan Yue, Yuanqing Fu, Jusheng Zheng, An Pan, Da Chen, Shangyu Hong, Xiong‐Fei Pan, Yan Zheng   +18 more
wiley   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, Volume 41, Issue 8, Page 2178-2183, August 2026.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 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

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

Integrating Gaucher disease (GD) into mainstream hematological curriculum training

HemaSphere, Volume 10, Issue 10, October 2026.
Colm Bradley, Argiris Symeonidis, Sam Salek, Nkemdirim Jacob   +3 more
wiley   +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

Synthesis and Biological Properties of Fungal Glucosylceramide

, 2014
Os esfingolipídeos surgiram recentemente como reguladores-chave da patogenicidade em uma variedade de fungos. A glucosilceramida é um esfingolipídeo importante para a divisão celular fúngica, tolerância alcalina, formação de hifas e germinação de esporos
Nimrichter, Leonardo, Luberto, Chiara, Del Poeta, Maurizio, Rodrigues, Marcio L.   +3 more
core   +1 more source

Avaliação de dois anos de tratamento da doença de Gaucher tipo 1 com terapia de reposição enzimática em pacientes do estado de São Paulo, Brasil Evaluation of two years of treatment with enzyme replacement therapy in type 1 Gaucher disease patients of São Paulo State, Brazil

Revista Brasileira de Hematologia e Hemoterapia, 2008
A doença de Gaucher tipo 1 é a doença de depósito lisossômico mais freqüente. De herança autossômica recessiva, é caracterizada pela deficiência da atividade da enzima glicocerebrosidase e o acúmulo patológico de seu substrato, a glicosilceramida, nas ...
Elisa A. P. Sobreira, Paula Bruniera
doaj   +1 more source