Novel polyketide from < em > Fusarium verticillioide < /em > G102 as NPC1L1 inhibitors
Nat Prod Res. 2023 Apr 19:1-7. doi: 10.1080/14786419.2023.2201885. Online ahead of print.ABSTRACTOne novel polyketide, fusaritide A (1), was isolated from a marine fish-derived halotolerant fungal strain Fusarium verticillioide G102. The structure was determined through extensive spectroscopic analysis and high-resolution electrospray ionization mass spectrometry. Fusaritide A (1) with unprecedented structure reduced cholesterol uptake by inhibiting Niemann-Pick C1-Like 1 (NPC1L1).PMID:37074061 | DOI:10.1080/14786419.2023.2201885 (Source: Natural Product Research)
Source: Natural Product Research - April 19, 2023 Category: Biochemistry Authors: Yuhan Zhang Wenjing Liu Gang Li Changzheng Wu Jing Yan Dan Feng Shuangzhi Yuan Renshuai Zhang Hongxiang Lou Xiaoping Peng Source Type: research
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1
Conclusions: These data suggest loss of iron homeostasis and hematological abnormalities in NPC1 may contribute to the pathophysiology of this disease.PMID:37065726 | PMC:PMC10090865 | DOI:10.12688/wellcomeopenres.17261.2 (Source: Cell Research)
Source: Cell Research - April 18, 2023 Category: Cytology Authors: Oscar C W Chen Stephan Siebel Alexandria Colaco Elena-Raluca Nicoli Nick Platt Dawn Shepherd Stephanie Newman Andrew E Armitage Nicole Y Farhat George Seligmann Claire Smith David A Smith Alaa Abdul-Sada Mylvaganam Jeyakumar Hal Drakesmith Forbes D Porter Source Type: research
Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1
Conclusions: These data suggest loss of iron homeostasis and hematological abnormalities in NPC1 may contribute to the pathophysiology of this disease.PMID:37065726 | PMC:PMC10090865 | DOI:10.12688/wellcomeopenres.17261.1 (Source: Cell Research)
Source: Cell Research - April 17, 2023 Category: Cytology Authors: Oscar C W Chen Stephan Siebel Alexandria Colaco Elena-Raluca Nicoli Nick Platt Dawn Shepherd Stephanie Newman Andrew E Armitage Nicole Y Farhat George Seligmann Claire Smith David A Smith Alaa Abdul-Sada Mylvaganam Jeyakumar Hal Drakesmith Forbes D Porter Source Type: research
Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-beta-Cyclodextrin in Patients with Niemann-Pick Type C
Intrathecal delivery of 2-Hydroxypropyl-beta-cyclodextrin (VTS-270, adrabetadex) by lumbar puncture (LP) has been performed on a 2-weekly schedule for over 9 years for the treatment of Niemann-Pick type C1 (NPC1) at Rush University Medical Center (RUMC). Over this time 59 patients with NPC1 have been treated with 2935 infusions, performed with either a 22 gauge 3 inch Whitacre or a 22 gauge 2 inch Gertie-Marx atraumatic needles, with or without general anesthesia. Adverse events potentially related to the LP infusion were collected from records for all treated NPC patients. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 15, 2023 Category: Neurology Authors: Orsolya K. Albert, Katherine Friedmann, Rebecca Jaeger CGC, Elizabeth Berry-Kravis Tags: Research Paper Source Type: research
Niemann-Pick C1 protein regulates platelet membrane-associated Ca < sup > 2+ < /sup > signalling in thrombo-occlusive diseases in mice
CONCLUSIONS: Our findings highlight that NPC1 regulates membrane-associated and SERCA3-dependent Ca2+ mobilisation during platelet activation and that MK/platelet-specific ablation of Npc1 protects against experimental models of arterial thrombosis and myocardial or cerebral ischemia/reperfusion injury.PMID:37054918 | DOI:10.1016/j.jtha.2023.03.038 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - April 13, 2023 Category: Hematology Authors: Mailin-Christin Manke Anna Roslan Britta Walker Patrick M ünzer Ferdinand Kollotzek Bing Peng Stine Mencl Cristina Coman Rebecca D Szepanowski Harald Schulze Andrew P Lieberman Florian Lang Meinrad Gawaz Christoph Kleinschnitz Robert Lukowski Robert Ahre Source Type: research
Niemann-Pick C1 protein regulates platelet membrane-associated Ca < sup > 2+ < /sup > signalling in thrombo-occlusive diseases in mice
CONCLUSIONS: Our findings highlight that NPC1 regulates membrane-associated and SERCA3-dependent Ca2+ mobilisation during platelet activation and that MK/platelet-specific ablation of Npc1 protects against experimental models of arterial thrombosis and myocardial or cerebral ischemia/reperfusion injury.PMID:37054918 | DOI:10.1016/j.jtha.2023.03.038 (Source: Thrombosis and Haemostasis)
Source: Thrombosis and Haemostasis - April 13, 2023 Category: Hematology Authors: Mailin-Christin Manke Anna Roslan Britta Walker Patrick M ünzer Ferdinand Kollotzek Bing Peng Stine Mencl Cristina Coman Rebecca D Szepanowski Harald Schulze Andrew P Lieberman Florian Lang Meinrad Gawaz Christoph Kleinschnitz Robert Lukowski Robert Ahre Source Type: research
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts
This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinson's disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement-sleep behavior disorder (RBD). We analyzed common and rare variants from 3 cohorts of European descent: 1084 RBD cases and 2945 controls, 2852 PD cases and 1686 controls, and 2610 DLB cases and 1920 controls. Logistic regression models were used to assess common variants while optimal sequence Kernel association tests were used to assess rare variants, both adjusted for sex, age, and principal components. No variants were associated with any of the synucl...
Source: Neurobiology of Aging - April 9, 2023 Category: Geriatrics Authors: Emma N Somerville Lynne Krohn Eric Yu Uladzislau Rudakou Konstantin Senkevich Jennifer A Ruskey Farnaz Asayesh Jamil Ahmad Dan Spiegelman Yves Dauvilliers Isabelle Arnulf Michele T M Hu Jacques Y Montplaisir Jean-Fran çois Gagnon Alex Desautels Abubaker Source Type: research
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts
This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinson's disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement-sleep behavior disorder (RBD). We analyzed common and rare variants from 3 cohorts of European descent: 1084 RBD cases and 2945 controls, 2852 PD cases and 1686 controls, and 2610 DLB cases and 1920 controls. Logistic regression models were used to assess common variants while optimal sequence Kernel association tests were used to assess rare variants, both adjusted for sex, age, and principal components. No variants were associated with any of the synucl...
Source: Neurobiology of Aging - April 9, 2023 Category: Geriatrics Authors: Emma N Somerville Lynne Krohn Eric Yu Uladzislau Rudakou Konstantin Senkevich Jennifer A Ruskey Farnaz Asayesh Jamil Ahmad Dan Spiegelman Yves Dauvilliers Isabelle Arnulf Michele T M Hu Jacques Y Montplaisir Jean-Fran çois Gagnon Alex Desautels Abubaker Source Type: research
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts
This study aimed to evaluate the association of NPC1 variants with the synucleinopathies Parkinson's disease (PD), dementia with Lewy bodies (DLB), and rapid eye movement-sleep behavior disorder (RBD). We analyzed common and rare variants from 3 cohorts of European descent: 1084 RBD cases and 2945 controls, 2852 PD cases and 1686 controls, and 2610 DLB cases and 1920 controls. Logistic regression models were used to assess common variants while optimal sequence Kernel association tests were used to assess rare variants, both adjusted for sex, age, and principal components. No variants were associated with any of the synucl...
Source: Neurobiology of Aging - April 9, 2023 Category: Geriatrics Authors: Emma N Somerville Lynne Krohn Eric Yu Uladzislau Rudakou Konstantin Senkevich Jennifer A Ruskey Farnaz Asayesh Jamil Ahmad Dan Spiegelman Yves Dauvilliers Isabelle Arnulf Michele T M Hu Jacques Y Montplaisir Jean-Fran çois Gagnon Alex Desautels Abubaker Source Type: research
CM3-SII polysaccharide obtained from Cordyceps militaris ameliorates hyperlipidemia in heterozygous LDLR-deficient hamsters by modulating gut microbiota and NPC1L1 and PPAR α levels
This study aimed to investigate whether CM3-SII could ameliorate hyperlipidemia in a heterozygous low-density lipoprotein receptor (LDLR)-deficient hamster model of hyperlipidemia. Our data demonstrated that CM3-SII significantly decreased total plasma cholesterol, non-high-density lipoprotein cholesterol, and triglyceride levels in heterozygous LDLR-deficient hamsters. Unlike ezetimibe, CM3-SII could enhance the concentration of plasma apolipoprotein A1 and the expression of liver X receptor α/ATP-binding cassette transporter G8 mRNA pathway and suppress the expression of Niemann-Pick C1-like 1, which help to reduce chol...
Source: International Journal of Biological Macromolecules - April 3, 2023 Category: Biochemistry Authors: Wen-Qian Yu Xiao-Lei Wang Hong-Hai Ji Miao Miao Bai-Hui Zhang Hua Li Zi-Yi Zhang Chen-Feng Ji Shou-Dong Guo Source Type: research
CM3-SII polysaccharide obtained from Cordyceps militaris ameliorates hyperlipidemia in heterozygous LDLR-deficient hamsters by modulating gut microbiota and NPC1L1 and PPAR α levels
This study aimed to investigate whether CM3-SII could ameliorate hyperlipidemia in a heterozygous low-density lipoprotein receptor (LDLR)-deficient hamster model of hyperlipidemia. Our data demonstrated that CM3-SII significantly decreased total plasma cholesterol, non-high-density lipoprotein cholesterol, and triglyceride levels in heterozygous LDLR-deficient hamsters. Unlike ezetimibe, CM3-SII could enhance the concentration of plasma apolipoprotein A1 and the expression of liver X receptor α/ATP-binding cassette transporter G8 mRNA pathway and suppress the expression of Niemann-Pick C1-like 1, which help to reduce chol...
Source: Atherosclerosis - April 3, 2023 Category: Cardiology Authors: Wen-Qian Yu Xiao-Lei Wang Hong-Hai Ji Miao Miao Bai-Hui Zhang Hua Li Zi-Yi Zhang Chen-Feng Ji Shou-Dong Guo Source Type: research
CM3-SII polysaccharide obtained from Cordyceps militaris ameliorates hyperlipidemia in heterozygous LDLR-deficient hamsters by modulating gut microbiota and NPC1L1 and PPAR α levels
This study aimed to investigate whether CM3-SII could ameliorate hyperlipidemia in a heterozygous low-density lipoprotein receptor (LDLR)-deficient hamster model of hyperlipidemia. Our data demonstrated that CM3-SII significantly decreased total plasma cholesterol, non-high-density lipoprotein cholesterol, and triglyceride levels in heterozygous LDLR-deficient hamsters. Unlike ezetimibe, CM3-SII could enhance the concentration of plasma apolipoprotein A1 and the expression of liver X receptor α/ATP-binding cassette transporter G8 mRNA pathway and suppress the expression of Niemann-Pick C1-like 1, which help to reduce chol...
Source: International Journal of Biological Macromolecules - April 3, 2023 Category: Biochemistry Authors: Wen-Qian Yu Xiao-Lei Wang Hong-Hai Ji Miao Miao Bai-Hui Zhang Hua Li Zi-Yi Zhang Chen-Feng Ji Shou-Dong Guo Source Type: research
Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China ’s first and the largest ovarian tissue cryobank
ConclusionsThe reports help practitioners counsel girls with rare diseases about fertility preservation. The demand for OTC in pediatrics will likely grow as a standard of care. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - April 3, 2023 Category: Endocrinology Source Type: research
Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC
Adv Exp Med Biol. 2023;1422:143-165. doi: 10.1007/978-3-031-21547-6_5.ABSTRACTLipid mistrafficking is a biochemical hallmark of Niemann-Pick Type C (NPC) disease and is classically characterized with endo/lysosomal accumulation of unesterified cholesterol due to genetic mutations in the cholesterol transporter proteins NPC1 and NPC2. Storage of this essential signaling lipid leads to a sequence of downstream events, including oxidative stress, calcium imbalance, neuroinflammation, and progressive neurodegeneration, another hallmark of NPC disease. These observations have been validated in a growing number of studies rangin...
Source: Advances in Experimental Medicine and Biology - March 29, 2023 Category: Research Authors: Stephanie M Cologna Koralege C Pathmasiri Melissa R Pergande Avia Rosenhouse-Dantsker Source Type: research
