Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer procedures.
AuthorsErlich S, Miranda SR, Visser JW, Dagan A, Gatt S, Schuchman EH
JournalBlood
PubMed ID9864149
'The general utility of a novel, fluorescence-based procedure for assessing gene transfer and expression has been demonstrated using hematopoietic stem and progenitor cells. Lineage-depleted hematopoietic cells were isolated from the bone marrow or fetal livers of acid sphingomyelinase-deficient mice, and retrovirally transduced with amphotropic or ecotropic vectors encoding a normal ... More
gamma-cyclodextrins greatly enhance translocation of hydrophobic fluorescent phospholipids from vesicles to cells in culture. Importance of molecular hydrophobicity in phospholipid trafficking studies.
AuthorsTanhuanpää K, Somerharju P
JournalJ Biol Chem
PubMed ID10585403
'Short-chain, fluorescent derivatives are commonly used to investigate intracellular phospholipid trafficking. However, their use can yield misleading results because they, unlike the native species, can rapidly distribute between organelles due to their low hydrophobicity. On the other hand, hydrophobic derivatives are very difficult to introduce to cells and thus have ... More
AuthorsSteinert S, Lee E, Tresset G, Zhang D, Hortsch R, Wetzel R, Hebbar S, Sundram JR, Kesavapany S, Boschke E, Kraut R,
JournalPLoS ONE
PubMed ID18716682
'BACKGROUND: The uptake and intracellular trafficking of sphingolipids, which self-associate into plasma membrane microdomains, is associated with many pathological conditions, including viral and toxin infection, lipid storage disease, and neurodegenerative disease. However, the means available to label the trafficking pathways of sphingolipids in live cells are extremely limited. In order ... More
A fluorescence-based, high-performance liquid chromatographic assay to determine acid sphingomyelinase activity and diagnose types A and B Niemann-Pick disease.
AuthorsHe X, Chen F, Dagan A, Gatt S, Schuchman EH
JournalAnal Biochem
PubMed ID12633609
'Acid sphingomyelinase (ASM; sphingomyelin phosphodiesterase, EC 3.1.4.12) is the lysosomal enzyme that hydrolyzes sphingomyelin (SPM) to phosphorylcholine and ceramide. An inherited deficiency of ASM activity results in Types A and B Niemann-Pick disease (NPD). In this study we report a new assay method to detect ASM activity and diagnose NPD ... More
Synthesis of fluorescent substrates and their application to study of sphingolipid metabolism in vitro and in intact cells.
AuthorsDagan A, Agmon V, Gatt S, Dinur T
JournalMethods Enzymol
PubMed ID11070879
Use of Bodipy-labeled sphingolipid and cholesterol analogs to examine membrane microdomains in cells.
AuthorsMarks DL, Bittman R, Pagano RE,
JournalHistochem Cell Biol
PubMed ID18820942
Much evidence has accumulated to show that cellular membranes such as the plasma membrane, contain multiple
Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide.
AuthorsD'Angelo G, Polishchuk E, Di Tullio G, Santoro M, Di Campli A, Godi A, West G, Bielawski J, Chuang CC, van der Spoel AC, Platt FM, Hannun YA, Polishchuk R, Mattjus P, De Matteis MA,
JournalNature
PubMed ID17687330
The molecular machinery responsible for the generation of transport carriers moving from the Golgi complex to the plasma membrane relies on a tight interplay between proteins and lipids. Among the lipid-binding proteins of this machinery, we previously identified the four-phosphate adaptor protein FAPP2, the pleckstrin homology domain of which binds ... More
Cholesterol controls lipid endocytosis through Rab11.
AuthorsTakahashi M, Murate M, Fukuda M, Sato SB, Ohta A, Kobayashi T,
JournalMol Biol Cell
PubMed ID17475773
Cellular cholesterol increases when cells reach confluency in Chinese hamster ovary (CHO) cells. We examined the endocytosis of several lipid probes in subconfluent and confluent CHO cells. In subconfluent cells, fluorescent lipid probes including poly(ethylene glycol)derivatized cholesterol, 22-(N-(7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino)-23,24-bisnor-5-cholen-3beta-ol, and fluorescent sphingomyelin analogs were internalized to pericentriolar recycling endosomes. This accumulation ... More
Vacuole formation in mast cells responding to osmotic stress and to F-actin disassembly.
AuthorsKoffer A, Williams M, Johansen T
JournalCell Biol Int
PubMed ID12421579
Fluorescent probes were used to visualize the morphology of membranes and of F-actin in rat peritoneal mast cells, exposed to hyperosmotic medium and consequently reversed to isotonicity. Hypertonicity induced cell shrinkage followed by a regulatory volume increase, and cell alkalinization that was sensitive to amiloride, an inhibitor of the Na(+)/H(+) ... More
Inhibitors of glycosphingolipid biosynthesis reduce transepithelial electrical resistance in MDCK I and FRT cells.
AuthorsLeung LW, Contreras RG, Flores-Maldonado C, Cereijido M, Rodriguez-Boulan E
JournalAm J Physiol Cell Physiol
PubMed ID12490435
Madin-Darby canine kidney (MDCK) I and Fisher rat thyroid (FRT) cells exhibit transepithelial electrical resistance (TER) values in excess of 5,000 Omega. cm(2). When these cells were incubated in the presence of various inhibitors of sphingolipid biosynthesis, a >5-fold reduction of TER was observed without changes in the gate function ... More
Agonist-induced PIP(2) hydrolysis inhibits cortical actin dynamics: regulation at a global but not at a micrometer scale.
Authorsvan Rheenen J, Jalink K
JournalMol Biol Cell
PubMed ID12221130
Phosphatidylinositol 4, 5-bisphosphate (PIP(2)) at the inner leaflet of the plasma membrane has been proposed to locally regulate the actin cytoskeleton. Indeed, recent studies that use GFP-tagged pleckstrin homology domains (GFP-PH) as fluorescent PIP(2) sensors suggest that this lipid is enriched in membrane microdomains. Here we report that this concept ... More
AuthorsZha X, Pierini LM, Leopold PL, Skiba PJ, Tabas I, Maxfield FR
JournalJ Cell Biol
PubMed ID9425152
ATP hydrolysis has been regarded as a general requirement for internalization processes in mammalian cells. We found, however, that treatment of ATP-depleted macrophages and fibroblasts with exogenous sphingomyelinase (SMase) rapidly induces formation of numerous vesicles that pinch off from the plasma membrane; the process is complete within 10 min after ... More
Release of phospholipids from erythrocyte membranes by taurocholate is determined by their transbilayer orientation and hydrophobic backbone.
AuthorsWüstner D, Pomorski T, Herrmann A, Müller P
JournalBiochemistry
PubMed ID9836604
Bile salts mediate a specific release of phosphatidylcholine (PC) from the canalicular membrane into the bile fluid. We utilized human red blood cells (RBC) as a model system to study the release of endogenous phospholipids as well as phospholipid analogues from plasma membranes in the presence of the bile salt ... More
Reproductive pathology and sperm physiology in acid sphingomyelinase-deficient mice.
AuthorsButler A, He X, Gordon RE, Wu HS, Gatt S, Schuchman EH
JournalAm J Pathol
PubMed ID12213735
Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the deficient activity of acid sphingomyelinase (ASM). In this manuscript we report the pathobiology of male gonadal tissue and sperm in a knockout mouse model of NPD and demonstrate the importance of ASM for normal sperm maturation ... More
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Authors
JournalMol Med
PubMed ID20386867
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A.
Authors
JournalStem Cells Transl Med
PubMed ID27484861
Ex vivo assay to evaluate the efficacy of drugs targeting sphingolipids in preventing SARS-CoV-2 infection of nasal epithelial cells.
Authors
JournalSTAR Protoc
PubMed ID33558862
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Authors
JournalEur J Hum Genet
PubMed ID25920558
Cocaine attenuates acid sphingomyelinase activity during establishment of addiction-related behavior-A translational study in rats and monkeys.
Authors
JournalAddict Biol
PubMed ID32761719
c-Abl Activation Linked to Autophagy-Lysosomal Dysfunction Contributes to Neurological Impairment in Niemann-Pick Type A Disease.
Authors
JournalFront Cell Dev Biol
PubMed ID35399514
A sphingolipid mechanism for behavioral extinction.
Authors
JournalJ Neurochem
PubMed ID26788861
Increased localization of APP-C99 in mitochondria-associated ER membranes causes mitochondrial dysfunction in Alzheimer disease.
Authors
JournalEMBO J
PubMed ID29018038
Vascular and Neurogenic Rejuvenation in Aging Mice by Modulation of ASM.
Authors
JournalNeuron
PubMed ID30269989
Lipid accumulation controls the balance between surface connection and scission of caveolae.