Results 81 to 90 of about 8,571 (202)

Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1

Stem Cell Research, 2021
Farber disease is an ultra-rare lysosomal storage disease. Mutations in the N-acylsphingosine amidohydrolase (ASAH1) gene, which encodes for the enzyme acid ceramidase (ACDase), cause ceramides to accumulate in the body.
Brianna M. Brooks, Charles D. Yeh, Jeanette Beers, Chengyu Liu, Yu-Shan Cheng, Kirill Gorshkov, Jizhong Zou, Wei Zheng, Catherine Z. Chen   +8 more
doaj   +1 more source

Chemical approaches to sphingolipid research [PDF]

, 2015
Podeu consultar el llibre complet a: http://hdl.handle.net/2445 ...
Abad Saiz, José Luis, Casas Brugulat, Josefina, Delgado Cirilo, Antonio, Fabriàs Domingo, Gemma   +3 more
core  

Saccharomyces cerevisiae depend on vesicular traffic between Golgi and vacuole when Inositolphosphorylceramide synthase Aur1 is inactivated [PDF]

, 2015
Inositolphosphorylceramide (IPC) and its mannosylated derivatives are the only complex sphingolipids of yeast. Their synthesis can be reduced by aureobasidin A (AbA), which specifically inhibits the IPC synthase Aur1.
Conzelmann, Andreas, Ejsing, Christer S, Mallela, Shamroop K, Roubaty, Carole, Vazquez, Hector M, Voynova, Natalia S   +5 more
core   +2 more sources

Disrupting Lipid Raft Microdomains to Block Polyploid Giant Cancer Cell Budding and Enhance Radiotherapy Response

Advanced Science, Volume 13, Issue 9, 13 February 2026.
Radiation induces polyploid giant cancer cells (PGCCs) that regenerate tumors through virus‐like budding. This process depends on a SNCG–FLOT2–CHMP4B signaling axis functioning in lipid raft microdomains. Disrupting these domains using statins or anti‐PCSK9 antibodies blocks PGCC budding, suppresses tumor repopulation, and enhances radiotherapy ...
Zheng Deng, Haoran Sun, Jin Cheng, Ruyi Zhao, Jianzhu Xie, Yanwei Song, Yucui Zhao, Chenwei Lin, Binjie Hu, Yanping Gong, Jun Lin, Sijia He, Yuntao Luo, Minghui Zhao, Yiwei Wang, Ming Jiao, Yuqin Yang, Jikun Li, Shujie Xia, Chuanyuan Li, Qian Huang   +20 more
wiley   +1 more source

Lipid metabolic perturbation is an early-onset phenotype in adult spinster mutants: a Drosophila model for lysosomal storage disorders [PDF]

, 2017
Intracellular accumulation of lipids and swollen dysfunctional lysosomes are linked to several neurodegenerative diseases, including lysosomal storage disorders (LSD).
Acharya JK, Acharya U, Avinash Khandelwal, Bilen J, Billeter JC, Brankatschk M, Carvalho M, Carvalho M, Cheng H, Cutler RG, Dasgupta U, Dermaut B, Dominik Schwudke, Ejsing CS, Fergestad T, Georgakopoulou EA, Ghosh A, Gray DA, Guan XL, Gutierrez E, Han X, Hebbar S, Hebbar S, Herzog R, Hickey AJ, Hindle S, Hindle SJ, Hoglinger D, Ito M, Jang S, Joanne Y. Yew, Julie Brill, Kawahara A, Kumarasamy SK, Lim A, Liu L, Lloyd-Evans E, Matyash V, Mi H, Milton VJ, Nakano Y, Osborne N, Palm W, Panchal M, Pantoja M, R. Jayashree, Rohrbough J, Rong Y, Samantha J. Hindle, Sampaio JL, Sarita Hebbar, Sasamura T, Schneider CA, Schwudke D, Sean T. Sweeney, Seppo A, Shevchenko A, Shevchenko A, Starostina E, Stern CA, Sweeney ST, te Vruchte D, Thomas PD, Venkatachalam K, Xu Y, Yew JY, Yin Ning Chiang, Zigdon H   +67 more
core   +1 more source

Lipidomic Analysis of Plasma Extracellular Vesicles from Adiponectin Deficient Mice or Metabolic Syndrome Patients Reveals Pro‐Oxidative and Pro‐Inflammatory Lipid Signatures Correlating with Metabolic Dysfunction

Journal of Extracellular Vesicles, Volume 15, Issue 2, February 2026.
Adiponectin deficiency remodels the lipid composition of plasma extracellular vesicles (EV), enriching polyunsaturated phospholipids and reducing lysophospholipids. These remodelled EV impact oxidative, inflammatory and metabolic function in recipient cells.
Sungji Cho, Hye Kyoung Sung, Khang Nguyen, Yubin Lei, Sivaporn Wannaiampikul, Brian Lee, Eddie Tam, Yihan Luo, Evgeniy V. Petrotchenko, Christoph H. Borchers, Kacey J. Prentice, Scott A Summers, Dylan Burger, Gary Sweeney   +13 more
wiley   +1 more source

Enhancing Selective Brain Cancer Therapy: Integrating Nanomedicine and Molecular Dynamics to Target the Cancerous Lipid Composition

Nano Select, Volume 7, Issue 2, February 2026.
Improving selectivity within therapeutic design is critical to ensure targeted delivery to brain tumors. Targeting the cellular membrane composition distinctive of the blood–brain barrier and brain cancer cells is explored in this review. Nanomedicine can be utilized for precise tumor recognition, and detailed mechanistic interactions of therapeutics ...
Mahnoor Kadri, Dominique de Jong‐Hoogland, Martin B. Ulmschneider   +2 more
wiley   +1 more source

11 beta-hydroxysteroid dehydrogenase type 1 regulates glucocorticoid-induced insulin resistance in skeletal muscle [PDF]

, 2009
OBJECTIVE: Glucocorticoid excess is characterized by increased adiposity, skeletal myopathy, and insulin resistance, but the precise molecular mechanisms are unknown.
A. Yu, Abdallah, Aguirre, Araki, C. Lenaghan, D. Laber, D. M. Smith, Danielsson, Djurhuus, Draznin, Fraser, G. Convey, G. G. Lavery, Geraghty, Giorgino, Giorgino, Giorgino, Hanada, I. J. Bujalska, J. K. Sethi, J. W. Tomlinson, Jang, K. Hegyi, Kido, Kim, L. L. Gathercole, Larsson, Liu, M. Sherlock, M  ssig, P. M. Stewart, R. Mayers, S. A. Morgan, Saad, van Staa, Watson, Whorwood, Zhang   +37 more
core   +3 more sources

The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα‐Fold Arrangement

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 2, Page 515-528, February 2026.
ABSTRACT Transport and Golgi Organization 2 Homolog (TANGO2) protein deficiency disorder (TDD) is a rare autosomal recessive disorder characterized by multi‐systemic abnormalities and significant phenotypic variability including neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, rhabdomyolysis, life‐threatening metabolic ...
Anne Cooper, Alyssa Powers, Kevin P. Battaile, Al‐Walid Mohsen, David K. Johnson, Scott Lovell, Lina Ghaloul‐Gonzalez   +6 more
wiley   +1 more source

Neutral ceramidase regulates breast cancer progression by metabolic programming of TREM2-associated macrophages

Nature Communications
The tumor microenvironment is reprogrammed by cancer cells and participates in all stages of tumor progression. Neutral ceramidase is a key regulator of ceramide, the central intermediate in sphingolipid metabolism. The contribution of neutral ceramidase
Rui Sun, Chao Lei, Zhishan Xu, Xuemei Gu, Liu Huang, Liang Chen, Yi Tan, Min Peng, Kavitha Yaddanapudi, Leah Siskind, Maiying Kong, Robert Mitchell, Jun Yan, Zhongbin Deng   +13 more
doaj   +1 more source