Results 91 to 100 of about 36,200 (174)

ESI-MS quantitation of increased sphingomyelin in Niemann-Pick disease type B HDL

Journal of Lipid Research, 2005
HDLs have been proposed to have antiatherogenic properties because of their role in reverse cholesterol transport as lipid acceptors. To elucidate the phospholipid profile of these particles, we used electrospray ionization mass spectrometry to examine ...
Ching Yin Lee, Alain Lesimple, Åsmund Larsen, Orval Mamer, Jacques Genest   +4 more
doaj   +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

Ceramide-induced cleavage of GPR64 intracellular domain drives Ewing sarcoma

Cell Reports
Summary: Ewing sarcoma is a cancer of bone and soft tissue in children and young adults primarily driven by the EWS-FLI1 fusion oncoprotein, which has been undruggable.
Kruthi Suvarna, Panneerselvam Jayabal, Xiuye Ma, Hu Wang, Yidong Chen, Susan T. Weintraub, Xianlin Han, Peter J. Houghton, Yuzuru Shiio   +8 more
doaj   +1 more source

Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing

Frontiers in Genetics
Niemann Pick disease B (NPB) often presents with hepatosplenomegaly and lung pathological changes, but it usually does not present with central nervous system symptoms. This report presents the unique case of a 21-year-old woman with a 10-year history of
Fang Wu, Dongying Su, Weisi Wang, Xia Song, Shufeng Fan, Jinzhan Su, Linying Ma, Jianxia Xu, Qinpan Rao   +8 more
doaj   +1 more source

Keratinocytes Rapidly Readjust Ceramide–Sphingomyelin Homeostasis and Contain a Phosphatidylcholine–Sphingomyelin Transacylase [PDF]

, 2004
Ceramide as central second messenger of the apoptosis-related sphingomyelin signaling pathway is a potential target for the control of cancer. A complex metabolizing network defines cell type and stage-specific final ceramide concentrations.
Wittig, Burghardt, Wanner, Reinhard, Peiser, Matthias   +2 more
core   +1 more source

Favorable clinical response to olipudase alfa in a patient with two variants of uncertain significance in SMPD1: a case report

Egyptian Journal of Medical Human Genetics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann–Pick disease, is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the Sphingomyelin phosphodiesterase 1 (SMPD1) gene, leading to the deficient activity ...
Luz María Sánchez-Sánchez, Jorge Álvarez-Longoria, Beatriz De la Fuente-Cortez, Valentina Martínez-Montoya, Ekaterina Sánchez-Romero   +4 more
doaj   +1 more source

Evidence for distinct behaviour of phosphatidylcholine and sphingomyelin at the low density lipoprotein surface

, 1997
This study demonstrates that the use of high field1H NMR spectroscopy permits individual detection of phosphatidylcholine and sphingomyelin molecules at the surface of native low density lipoprotein (LDL) particles.
Murphy, H.C., Barnard, M.L., Raoof, A., Bell, J.D., White, J.J., Burns, S.P., Ala-Korpela, M., Iles, R.A.   +7 more
core   +1 more source

Procollagen binding to sphingomyelin.

, 1993
International audienceThe interactions of [3H]procollagen I with various phospholipids were studied by density gradient centrifugation. At physiological conditions of pH, ionic strength, and temperature, there was no evidence for procollagen binding to ...
Choglay, Aa, Hulmes, Dj, Purdom, If
core   +2 more sources

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Spinocerebellar ataxia with axonal neuropathy:consequence of a Tdp1 recessive neomorphic mutation? [PDF]

, 2007
Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3' end of DNA.
Choi, Kunho, Bhattacharjee, Meenakshi B, Northrop, Jennifer L, Champoux, James J, Huang, Cheng, Salih, Mustafa A M, Takashima, Hiroshi, Arimura, Kimiyoshi, Izumo, Shuji, Interthal, Heidrun, Inoue, Ken, Armstrong, Dawna L, Hirano, Ryuki, Umehara, Fujio, Boerkoel, Cornelius F, Nakamura, Tomonori, Deguchi, Kimiko   +16 more
core   +1 more source