Results 21 to 30 of about 7,161 (190)

Corrigendum to: "Characterization of Sphingomyelin Phosphodiesterase Expression in Bumblebee (Bombus lantschouensis)". [PDF]

J Insect Sci, 2019
europepmc   +4 more sources

Upregulation of sphingomyelin and ABCA8 in response to TDP-43 pathology in amyotrophic lateral sclerosis brain. [PDF]

Brain Pathol
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Isik FI, Pickford R, Dzamko N, Rye KA, Kim WS.   +4 more
europepmc   +2 more sources

A Comprehensive Characterization of the Phospholipid and Cholesterol Composition of the Uncinate Fasciculus in the Human Brain: Evidence of Age-Related Alterations. [PDF]

J Neurochem
The uncinate fasciculus (UF), which serves to connect the anterior temporal lobe and the orbitofrontal cortex, is a highly understudied white matter fiber bundle. In this study, we characterized the fatty acid (FA) profile of myelin phospholipids in a fraction‐specific manner, as well as the cholesterol concentrations, in the human postmortem UF.
Perlman K, Chen CT, Smith ME, Kim J, Turecki G, Bazinet RP, Mechawar N.   +6 more
europepmc   +2 more sources

SIRT1 regulates sphingolipid metabolism and neural differentiation of mouse embryonic stem cells through c-Myc-SMPDL3B

eLife, 2021
Sphingolipids are important structural components of cell membranes and prominent signaling molecules controlling cell growth, differentiation, and apoptosis.
Wei Fan, Shuang Tang, Xiaojuan Fan, Yi Fang, Xiaojiang Xu, Leping Li, Jian Xu, Jian-Liang Li, Zefeng Wang, Xiaoling Li   +9 more
doaj   +1 more source

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

Frontiers in Genetics, 2022
The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental ...
Weigang Ji, Xiangtian Kong, Honggang Yin, Jian Xu, Xueqian Wang, Xueqian Wang   +5 more
doaj   +1 more source

Sphingomyelin in Human Breast Milk might be Essential for the Hippocampus Maturation

Frontiers in Bioscience-Landmark, 2022
Background: It has been established that sphingomyelin present human breast milk is useful for the brain maturation and cognitive development. At 10 days of breastfeeding the sphingomyelin content is double that present in cow’s milk and its content is ...
Elisabetta Albi, Cataldo Arcuri, Toshihide Kobayashi, Nario Tomishige, Michele Dei Cas, Rita Paroni, Paola Signorelli, Laura Cerquiglini, Stefania Troiani, Chiara Gizzi, Maria Rachele Ceccarini, Alessandra Mirarchi, Lina Cossignani, Mercedes Garcia Gil, Tommaso Beccari, Samuela Cataldi   +15 more
doaj   +1 more source

Targeting glioblastoma signaling and metabolism with a re-purposed brain-penetrant drug

Cell Reports, 2021
Summary: The highly lethal brain cancer glioblastoma (GBM) poses a daunting challenge because the blood-brain barrier renders potentially druggable amplified or mutated oncoproteins relatively inaccessible.
Junfeng Bi, Atif Khan, Jun Tang, Aaron M. Armando, Sihan Wu, Wei Zhang, Ryan C. Gimple, Alex Reed, Hui Jing, Tomoyuki Koga, Ivy Tsz-Lo Wong, Yuchao Gu, Shunichiro Miki, Huijun Yang, Briana Prager, Ellis J. Curtis, Derek A. Wainwright, Frank B. Furnari, Jeremy N. Rich, Timothy F. Cloughesy, Harley I. Kornblum, Oswald Quehenberger, Andrey Rzhetsky, Benjamin F. Cravatt, Paul S. Mischel   +24 more
doaj   +1 more source

Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach

Frontiers in Medicine, 2021
Background: Molecular biology has recently added new insights into the comprehension of the physiopathology of the medullary sponge kidney disease (MSK), a rare kidney malformation featuring nephrocalcinosis and recurrent renal stones.
Simona Granata, Maurizio Bruschi, Michela Deiana, Andrea Petretto, Gianmarco Lombardi, Alberto Verlato, Rossella Elia, Giovanni Candiano, Giovanni Malerba, Giovanni Gambaro, Gianluigi Zaza   +10 more
doaj   +1 more source

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan. [PDF]

Mol Genet Genomic Med
In Taiwan, the SMPD1 c.1497_1498inv variant was common in chronic neurovisceral acid sphingomyelinase deficiency (ASMD), while c.995C > G was more frequently observed in chronic visceral ASMD. Four patients treated with olipudase alfa showed clinical improvements, particularly when treatment was started in early childhood.
Lin HH, Chen HA, Lin SJ, Hsu RH, Lee NC, Hwu WL, Ni YH, Chou YY, Chiu PC, Peng SS, Chien YH.   +10 more
europepmc   +2 more sources

Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts [PDF]

, 2013
The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes.
A Mansukhani, AK Coussens, BD Stamper, BK Huang, BU Ang, C Owen, C Yao, CB Harvey, CH Shackleton, CW Li, D Gomez, D Johnson, DC Robinson, DP Rice, DT Gault, G Radetti, G Ramajayam, GA Brent, GM Morriss-Kay, GR Williams, H Kohara, H Miraoui, HJ Kim, J Connerney, J Esparza, J Zumbrunn, JA Greenwald, Jack C. Yu, James J. Cray, JH Bassett, JH Oh, JL Penfold, JM Britto, JQ Feng, JS Morey, K Kasono, KA Kapp-Simon, Kameron Khaksarfard, KM Lee, M Bodo, M Menking, M Segni, MH Sheng, MM Cohen Jr, Mohammed Elsalanty, PJ Marie, R Rice, S Akita, S Wadhwa, S Weiss, SA Boyadjiev, SA Rasmussen, Seth M. Weinberg, W Arlt, W Riggs Jr, WM Chadduck, Xing-Ming Shi, Y Xiong, Z von Marschall   +58 more
core   +8 more sources