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https://www.readbyqxmd.com/read/30487246/de-novo-mutation-in-elovl1-causes-ichthyosis-acanthosis-nigricans-hypomyelination-spastic-paraplegia-high-frequency-deafness-and-optic-atrophy
#1
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke
BACKGROUND: Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant ELOVL1 mutation. Independently, Kutkowska-Kaźmierczak et al. had investigated the same patients and found the same mutation. We extended our study towards additional biochemical, functional, and therapeutic aspects. METHODS: We did mutation screening by whole exome sequencing...
November 28, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30453012/neuronal-ceroid-lipofuscinosis-related-er-membrane-protein-cln8-regulates-pp2a-activity-and-ceramide-levels
#2
Babita Adhikari, Bhagya De Silva, Joshua A Molina, Ashton Allen, Sun H Peck, Stella Y Lee
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative lysosomal storage disorders. CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease. CLN8 is an ER resident protein with unknown function; however, a role in ceramide metabolism has been suggested. In this report, we identified PP2A and its biological inhibitor I2PP2A as interacting proteins of CLN8. PP2A is one of the major serine/threonine phosphatases in cells and governs a wide range of signaling pathways by dephosphorylating critical signaling molecules...
November 16, 2018: Biochimica et biophysica acta. Molecular basis of disease
https://www.readbyqxmd.com/read/30452592/cd40-enhances-sphingolipids-in-orbital-fibroblasts-potential-role-of-sphingosine-1-phosphate-in-inflammatory-t-cell-migration-in-graves-orbitopathy
#3
Svenja Plöhn, Bärbel Edelmann, Lukasz Japtok, Xingxuan He, Matthias Hose, Wiebke Hansen, Edward H Schuchman, Anja Eckstein, Utta Berchner-Pfannschmidt
Purpose: Graves' orbitopathy (GO) is an autoimmune orbital disorder associated with Graves' disease caused by thyrotropin receptor autoantibodies. Orbital fibroblasts (OFs) and CD40 play a key role in disease pathogenesis. The bioactive lipid sphingosine-1-phosphate (S1P) has been implicated in promoting adipogenesis, fibrosis, and inflammation in OFs. We investigated the role of CD40 signaling in inducing S1P activity in orbital inflammation. Methods: OFs and T cells were derived from GO patients and healthy control (Ctl) persons...
November 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30403723/structure-of-the-golgi-apparatus-is-not-influenced-by-a-gag-deletion-mutation-in-the-dystonia-associated-gene-tor1a
#4
Sara B Mitchell, Sadahiro Iwabuchi, Hiroyuki Kawano, Tsun Ming Tom Yuen, Jin-Young Koh, K W David Ho, N Charles Harata
Autosomal-dominant, early-onset DYT1 dystonia is associated with an in-frame deletion of a glutamic acid codon (ΔE) in the TOR1A gene. The gene product, torsinA, is an evolutionarily conserved AAA+ ATPase. The fact that constitutive secretion from patient fibroblasts is suppressed indicates that the ΔE-torsinA protein influences the cellular secretory machinery. However, which component is affected remains unclear. Prompted by recent reports that abnormal protein trafficking through the Golgi apparatus, the major protein-sorting center of the secretory pathway, is sometimes associated with a morphological change in the Golgi, we evaluated the influence of ΔE-torsinA on this organelle...
2018: PloS One
https://www.readbyqxmd.com/read/30399362/pharmacological-inhibition-of-serine-palmitoyl-transferase-and-sphingosine-kinase-1-2-inhibits-merkel-cell-carcinoma-cell-proliferation
#5
Vishwanath Kumble Bhat, Eva Bernhart, Ioanna Plastira, Kaiji Fan, Nassim Ghaffari Tabrizi-Wizsy, Christian Wadsack, Gerald Rechberger, Thomas Eichmann, Martin Asslaber, Ivelina Spassova, Monique E Verhaegen, Ernst Malle, Jürgen C Becker, Wolfgang Sattler
The majority of Merkel cell carcinoma (MCC), a highly aggressive neuroendocrine cancer of the skin, is associated with Merkel cell polyomavirus (MCPyV) infection. Polyomavirus binding, internalization and infection is mediated by glycosphingolipids (GSL). Besides receptor function, bioactive sphingolipids (SL) are increasingly recognized as potent regulators of several hallmarks of cancer. MCPyV+ and MCPyV- cells express serine palmitoyltransferase (SPT) subunits and sphingosine kinase (SK)1/2 mRNA. Induced expression of MCPyV-large tumor antigen in human lung fibroblasts resulted in upregulation of SPTLC1-3 and SK1/2 expression...
November 3, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/30343189/gprc5b-mediated-sphingomyelin-synthase-2-phosphorylation-plays-a-critical-role-in-insulin-resistance
#6
Yeon-Jeong Kim, Peter Greimel, Yoshio Hirabayashi
GPRC5B recruitment of Src family kinases has been implicated in diet-induced insulin resistance. However, the mechanism of this action is not fully understood. Here, we report that GPRC5B-mediated phosphorylation of sphingomyelin synthase 2 (SMS2) by Fyn is a crucial step in the development of insulin resistance. Lipid-induced metabolic stress augments SMS2 phosphorylation by facilitating the interaction of GPRC5B and SMS2. SMS2 phosphorylation reduces its ubiquitination, and consequently increases SMS2 protein abundance...
October 26, 2018: iScience
https://www.readbyqxmd.com/read/29970615/an-oxanthroquinone-derivative-that-disrupts-ras-plasma-membrane-localization-inhibits-cancer-cell-growth
#7
Lingxiao Tan, Kwang-Jin Cho, Pratik Neupane, Robert J Capon, John F Hancock
Oncogenic RAS proteins are commonly expressed in human cancer. To be functional, RAS proteins must undergo post-translational modification and localize to the plasma membrane (PM). Therefore, compounds that prevent RAS PM targeting have potential as putative RAS inhibitors. Here we examine the mechanism of action of oxanthroquinone G01 (G01), a recently described inhibitor of KRAS PM localization. We show that G01 mislocalizes HRAS and KRAS from the PM with similar potency and disrupts the spatial organization of RAS proteins remaining on the PM...
August 31, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29876372/fibroblast-and-keratinocyte-gene-expression-following-exposure-to-the-extracts-of-holy-basil-plant-ocimum-tenuiflorum-malabar-nut-plant-justicia-adhatoda-and-emblic-myrobalan-plant-phyllanthus-emblica
#8
Takao Someya, Katsura Sano, Kotaro Hara, Yoshimasa Sagane, Toshihiro Watanabe, R G S Wijesekara
This data article provides gene expression profiles, determined by using real-time PCR, of fibroblasts and keratinocytes treated with 0.01% and 0.001% extracts of holy basil plant ( Ocimum tenuiflorum ), sri lankan local name "maduruthala", 0.1% and 0.01% extracts of malabar nut plant ( Justicia adhatoda ), sri lankan local name "adayhoda" and 0.003% and 0.001% extracts of emblic myrobalan plant ( Phyllanthus emblica ), sri lankan local name "nelli", harvested in Sri Lanka. For fibroblasts, the dataset includes expression profiles for genes encoding hyaluronan synthase 1 (HAS1), hyaluronan synthase 2 (HAS2), hyaluronidase-1 (HYAL1), hyaluronidase-2 (HYAL2), versican, aggrecan, CD44, collagen, type I, alpha 1 (COL1A1), collagen, type III, alpha 1 (COL3A1), collagen, type VII, alpha 1 (COL7A1), matrix metalloproteinase 1 (MMP1), acid ceramidase, basic fibroblast growth factor (bFGF), fibroblast growth factor-7 (FGF7), vascular endothelial growth factor (VEGF), interleukin-1 alpha (IL-1α), cyclooxygenase-2 (cox2), transforming growth factor beta (TGF-β), and aquaporin 3 (AQP3)...
April 2018: Data in Brief
https://www.readbyqxmd.com/read/29746165/a-lysosome-plasma-membrane-sphingolipid-axis-linking-lysosomal-storage-to-cell-growth-arrest
#9
Maura Samarani, Nicoletta Loberto, Giulia Soldà, Letizia Straniero, Rosanna Asselta, Stefano Duga, Giulia Lunghi, Fabio A Zucca, Laura Mauri, Maria Grazia Ciampa, Domitilla Schiumarini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Alessandro Prinetti, Massimo Aureli, Sandro Sonnino
Lysosomal accumulation of undegraded materials is a common feature of lysosomal storage diseases, neurodegenerative disorders, and the aging process. To better understand the role of lysosomal storage in the onset of cell damage, we used human fibroblasts loaded with sucrose as a model of lysosomal accumulation. Sucrose-loaded fibroblasts displayed increased lysosomal biogenesis followed by arrested cell proliferation. Notably, we found that reduced lysosomal catabolism and autophagy impairment led to an increase in sphingolipids ( i...
October 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29673590/the-cross-roles-of-sphingosine-kinase-1-2-and-ceramide-glucosyltransferase-in-cell-growth-and-death
#10
Jingdong Qin, John P Kilkus, Glyn Dawson
Sphingosine-1-phosphate is synthesized by two sphingosine kinases, cytosolic SK1 and nuclear SK2 but SK2 expression was much higher than SK1in mouse skin fibroblasts. However, in SK2-/- cells, SK1 expression was markedly increased to SK2 levels whereas in SK1-/- cells, SK2 expression was unaffected. Ceramide, glucosylceramide and sphingosine levels were all increased in SK1-/- but less so in SK2-/- cells and S1P levels were not significantly reduced in either SK1-/- or SK2-/- cells. Greatly increased Ceramide glucosyltransferase expression was observed in SK1-/- cells but less so in SK2-/- cells suggested a role in drug resistance...
June 7, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29580926/19q13-12-microdeletion-syndrome-fibroblasts-display-abnormal-storage-of-cholesterol-and-sphingolipids-in-the-endo-lysosomal-system
#11
Kexin Zhao, Aarnoud van der Spoel, Claudia Castiglioni, Sarah Gale, Hideji Fujiwara, Daniel S Ory, Neale D Ridgway
Microdeletions in 19q12q13.12 cause a rare and complex haploinsufficiency syndrome characterized by intellectual deficiency, developmental delays, and neurological movement disorders. Variability in the size and interval of the deletions makes it difficult to attribute the complex clinical phenotype of this syndrome to an underlying gene(s). As an alternate approach, we examined the biochemical and metabolic features of fibroblasts from an affected individual to derive clues as to the molecular basis for the syndrome...
June 2018: Biochimica et biophysica acta. Molecular basis of disease
https://www.readbyqxmd.com/read/29428730/targeting-sphingosine-kinase-2-by-abc294640-inhibits-human-skin-squamous-cell-carcinoma-cell-growth
#12
Jianbo Zhou, Jin Chen, Huanmiao Yu
The activity of ABC294640, a small-molecular sphingosine kinase 2 (SphK2) inhibitor, in human skin squamous cell carcinoma (SCC) cells was tested in this study. SphK2 mRNA and protein are expressed in established (A431 cheilocarcinoma cell line) and primary human skin SCC cells. ABC294640 dose-dependently inhibited survival, cell cycle progression and proliferation of skin SCC cells. Furthermore, ABC294640 induced caspase-3/-9 and apoptosis activation in skin SCC cells. The SphK2 inhibitor was however non-cytotoxic to SphK2-null skin melanocytes, keratinocytes and fibroblasts...
March 4, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29404440/engineered-fgf19-eliminates-bile-acid-toxicity-and-lipotoxicity-leading-to-resolution-of-steatohepatitis-and-fibrosis-in-mice
#13
Mei Zhou, R Marc Learned, Stephen J Rossi, Alex M DePaoli, Hui Tian, Lei Ling
Nonalcoholic fatty liver disease (NAFLD) is an increasingly prevalent chronic liver disease for which no approved therapies are available. Despite intensive research, the cellular mechanisms that mediate NAFLD pathogenesis and progression are poorly understood. Although obesity, diabetes, insulin resistance, and related metabolic syndrome, all consequences of a Western diet lifestyle, are well-recognized risk factors for NAFLD development, dysregulated bile acid metabolism is emerging as a novel mechanism contributing to NAFLD pathogenesis...
December 2017: Hepatology Communications
https://www.readbyqxmd.com/read/29396028/cutis-laxa-exocrine-pancreatic-insufficiency-and-altered-cellular-metabolomics-as-additional-symptoms-in-a-new-patient-with-atp6ap1-cdg
#14
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G Christoph Korenke, Christian Thiel
Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542T>G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H+ -ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29322079/fibroblast-and-keratinocyte-gene-expression-following-exposure-to-extracts-of-neem-plant-azadirachta-indica
#15
Takao Someya, Katsura Sano, Kotaro Hara, Yoshimasa Sagane, Toshihiro Watanabe, R G S Wijesekara
This data article provides gene expression profiles, determined by using real-time PCR, of fibroblasts and keratinocytes treated with 0.01% and 0.001% extracts of neem plant (Azadirachta indica), local name "Kohomba" in Sri Lanka, harvested in Sri Lanka. For fibroblasts, the dataset includes expression profiles for genes encoding hyaluronan synthase 1 (HAS1), hyaluronan synthase 2 (HAS2), hyaluronidase-1 (HYAL1), hyaluronidase-2 (HYAL2), versican, aggrecan, CD44, collagen, type I, alpha 1 (COL1A1), collagen, type III, alpha 1 (COL3A1), collagen, type VII, alpha 1 (COL7A1), matrix metalloproteinase 1 (MMP1), acid ceramidase, basic fibroblast growth factor (bFGF), fibroblast growth factor-7 (FGF7), vascular endothelial growth factor (VEGF), interleukin-1 alpha (IL-1α), cyclooxygenase-2 (cox2), transforming growth factor beta (TGF-β), and aquaporin 3 (AQP3)...
February 2018: Data in Brief
https://www.readbyqxmd.com/read/29211351/application-of-fourier-transform-infrared-spectroscopy-to-biomolecular-profiling-of-cultured-fibroblast-cells-from-gaucher-disease-patients-a-preliminary-investigation
#16
Nasit Igci, Parisa Sharafi, Duygu Ozel Demiralp, Cemil Ozerk Demiralp, Aysel Yuce, Serap Dokmeci Emre
BACKGROUND: Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29130419/recapitulation-of-native-dermal-tissue-in-a-full-thickness-human-skin-model-using-human-collagens
#17
Arnout Mieremet, Marion Rietveld, Rianne van Dijk, Joke A Bouwstra, Abdoelwaheb El Ghalbzouri
OBJECTIVE: Full-thickness skin models comprise a three-dimensional dermal equivalent based on an animal-derived collagen matrix that harbors fibroblasts and an epidermal equivalent formed by keratinocytes. The functionality of both equivalents is influenced by many factors, including extracellular matrix composition and resident cell type. Animal-derived collagens differ in amino acid composition and physicochemical properties from human collagens. This composition could alter the functionality of the dermal equivalent and epidermal morphogenesis with the barrier formation in full-thickness models (FTMs)...
June 2018: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28827783/ccdc3-a-new-p63-target-involved-in-regulation-of-liver-lipid-metabolism
#18
Wenjuan Liao, Hongbing Liu, Yiwei Zhang, Ji Hoon Jung, Jiaxiang Chen, Xiaohua Su, Yeong C Kim, Elsa R Flores, San Ming Wang, Malwina Czarny-Ratajczak, Wen Li, Shelya X Zeng, Hua Lu
TAp63, a member of the p53 family, has been shown to regulate energy metabolism. Here, we report coiled coil domain-containing 3 (CCDC3) as a new TAp63 target. TAp63, but not ΔNp63, p53 or p73, upregulates CCDC3 expression by directly binding to its enhancer region. The CCDC3 expression is markedly reduced in TAp63-null mouse embryonic fibroblasts and brown adipose tissues and by tumor necrosis factor alpha that reduces p63 transcriptional activity, but induced by metformin, an anti-diabetic drug that activates p63...
August 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28775166/aneuploid-cell-survival-relies-upon-sphingolipid-homeostasis
#19
Yun-Chi Tang, Hui Yuwen, Kaiying Wang, Peter M Bruno, Kevin Bullock, Amy Deik, Stefano Santaguida, Marianna Trakala, Sarah J Pfau, Na Zhong, Tao Huang, Lan Wang, Clary B Clish, Michael T Hemann, Angelika Amon
Aneuploidy, a hallmark of cancer cells, poses an appealing opportunity for cancer treatment and prevention strategies. Using a cell-based screen to identify small molecules that could selectively kill aneuploid cells, we identified the compound N -[2-hydroxy-1-(4-morpholinylmethyl)-2-phenylethyl]-decanamide monohydrochloride (DL-PDMP), an antagonist of UDP-glucose ceramide glucosyltransferase. DL-PDMP selectively inhibited proliferation of aneuploid primary mouse embryonic fibroblasts and aneuploid colorectal cancer cells...
October 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28379166/phospholipase-d-from-loxosceles-laeta-spider-venom-induces-il-6-il-8-cxcl1-gro-%C3%AE-and-ccl2-mcp-1-production-in-human-skin-fibroblasts-and-stimulates-monocytes-migration
#20
José M Rojas, Tomás Arán-Sekul, Emmanuel Cortés, Romina Jaldín, Kely Ordenes, Patricio R Orrego, Jorge González, Jorge E Araya, Alejandro Catalán
Cutaneous loxoscelism envenomation by Loxosceles spiders is characterized by the development of a dermonecrotic lesion, strong inflammatory response, the production of pro-inflammatory mediators, and leukocyte migration to the bite site. The role of phospholipase D (PLD) from Loxosceles in the recruitment and migration of monocytes to the envenomation site has not yet been described. This study reports on the expression and production profiles of cytokines and chemokines in human skin fibroblasts treated with catalytically active and inactive recombinant PLDs from Loxosceles laeta (rLlPLD) and lipid inflammatory mediators ceramide 1-phosphate (C1P) and lysophosphatidic acid (LPA), and the evaluation of their roles in monocyte migration...
April 5, 2017: Toxins
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