TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P modification of NPC2 and cholesterol transport
J Lipid Res. 2023 Oct 25:100465. doi: 10.1016/j.jlr.2023.100465. Online ahead of print.ABSTRACTAccurate intracellular cholesterol traffic plays crucial roles. Niemann Pick type C (NPC) proteins NPC1 and NPC2, are two lysosomal cholesterol transporters that mediate the cholesterol exit from lysosomes. However, other proteins involved in this process remain poorly defined. Here we find that the previously unannotated protein TMEM241 is required for cholesterol egressing from lysosomes through amphotericin B-based genome-wide CRISPR-Cas9 knockout screening. Ablation of TMEM241 caused impaired sorting of NPC2, a protein utiliz...
Source: Cell Research - October 27, 2023 Category: Cytology Authors: Nan Zhao Gang Deng Pei-Xin Yuan Ya-Fen Zhang Lu-Yi Jiang Xiaolu Zhao Bao-Liang Song Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipat...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 31;51(5):1777-1787. doi: 10.1042/BST20220711.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipated links to other r...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C
Biochem Soc Trans. 2023 Oct 31;51(5):1777-1787. doi: 10.1042/BST20220711.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipated links to other r...
Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research
The modulatory effects on enterohepatic cholesterol metabolism of novel cholesterol-lowering peptides from gastrointestinal digestion of Xuanwei ham
Food Res Int. 2023 Nov;173(Pt 2):113391. doi: 10.1016/j.foodres.2023.113391. Epub 2023 Aug 22.ABSTRACTThe aim of this study was to investigate the effects and mechanism of in vitro protein digestive products of Xuanwei ham with different ripening periods on cholesterol metabolism and hypercholesterolemia. The results showed that compared with other gastrointestinal digestion (GID) groups, the GID group of Xuanwei ham with 3-year ripening period (XWH3-GID) inhibited the expression of Niemann-Pick C1-like 1 (NPC1L1) and acetyl-CoA acetyltransferase 2 (ACAT2) through hepatocyte nuclear factor 1-alpha (HNF-1α), which in turn ...
Source: Cell Research - October 7, 2023 Category: Cytology Authors: Jie Guo Ying Wang Peijun Li Wenda Wu Feiran Xu Kai Zhou Baocai Xu Source Type: research
Ezetimibe Induces Vasodilation in Rat Mesenteric Resistance Arteries through Inhibition of Extracellular Ca < sup > 2+ < /sup > Influx
Int J Mol Sci. 2023 Sep 12;24(18):13992. doi: 10.3390/ijms241813992.ABSTRACTEzetimibe is a lipid-lowering agent that selectively inhibits cholesterol absorption by binding to the Niemann-Pick C1-like 1 (NPC1L1) protein. Although it is well known that administration of ezetimibe in hypercholesterolemia patients reduces the risk of cardiovascular events through attenuation of atherosclerosis, studies on the direct effect of ezetimibe on vascular function are not sufficient. The aim of the present study was to investigate the vascular effects of ezetimibe in rat mesenteric arteries. In the present study, 12-week-old male Spra...
Source: Atherosclerosis - September 28, 2023 Category: Cardiology Authors: Eun Yi Oh Chae Eun Haam Sooyeon Choi Seonhee Byeon Soo-Kyoung Choi Young-Ho Lee Source Type: research
