المؤلفون: Chunli Yu, Wenyue Zhang, Melissa P. Wasserstein, Margo Sheck Breilyn

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100780-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, Reference range, Disease, Gastroenterology, ASM, acid sphingomyelinase, Endocrinology, R5-920, Internal medicine, SMPD1, sphingomyelin phosphodiesterase 1, Lysosomal storage diseases, Genetics, medicine, Nieman pick disease, Clinical severity, Biology (General), Molecular Biology, Acid sphingomyelinase deficiency, business.industry, Biomarker, Response to treatment, ERT, enzyme replacement therapy, ASMD, acid sphingomyelinase deficiency, Lyso-sphingomyelin, Biomarker (medicine), Acid sphingomyelinase, business, Sphingomyelin, Natural history study, medicine.drug, Research Paper, LSM, Lyso-sphingomyelin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::340f7235dbafa7f703abb63c6610eee1
http://www.sciencedirect.com/science/article/pii/S2214426921000744

المؤلفون: Julia V. Busik

المصدر: Journal of Lipid Research
Journal of Lipid Research, Vol 62, Iss, Pp 100017-(2021)

مصطلحات موضوعية: 0301 basic medicine, Statin, tight junctions, medicine.drug_class, DR, diabetic retinopathy, Peroxisome proliferator-activated receptor, Blood lipids, Fibrate, QD415-436, 030204 cardiovascular system & hematology, Pharmacology, Biochemistry, ASM, acid sphingomyelinase, 03 medical and health sciences, chemistry.chemical_compound, VLC, very long chain, 0302 clinical medicine, Endocrinology, Diabetes mellitus, medicine, BRB, blood-retinal barrier, triglyceride, ceramide, SC, short chain, chemistry.chemical_classification, Diabetic Retinopathy, fibrate, Triglyceride, Cholesterol, business.industry, statin, cholesterol, Lipid metabolism, Thematic Review Series, Cell Biology, medicine.disease, RPE, retinal pigment epithelial, mitochondria, 030104 developmental biology, TJ, tight junction, chemistry, lipids (amino acids, peptides, and proteins), fatty acid, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6aa493f8d593c77dc82258108941d4a
https://pubmed.ncbi.nlm.nih.gov/33581416

المؤلفون: Nihal Altan-Bonnet, Hayley S. McLoughlin, Michael Schlame, Kirill Gorshkov, Wei Zheng, Ruth D. Azaria, Kimberly Lai, Yang Xu, Thaddeus J. Kunkel, Miriam Waghalter, Mark L. Schultz, Andrew P. Lieberman, Judith Storch, Maciej Jeziorek, Radek Dobrowolski, Bruce Nguyen Tran, Olga Ilnytska

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, LC3, microtubule-associated proteins 1A/1B light chain 3, AML, amitriptyline, Niemann–Pick type C disease, BMP, bis(monoacylglycerol)phosphate, PG, phosphatidylglycerol, Biochemistry, ASM, acid sphingomyelinase, NPC1, Niemann–Pick type C1, DHA, docosahexaenoyl, PC, phosphatidylcholine, Purkinje Cells, chemistry.chemical_compound, Neural Stem Cells, hemic and lymphatic diseases, Sequestosome-1 Protein, Cardiolipin, Homeostasis, acid sphingomyelinase, Late endosome, LBPA, lysobisphosphatidic acid, SREBP2, sterol regulatory element binding protein 2, Intracellular Signaling Peptides and Proteins, Niemann-Pick Disease, Type C, Phosphatidylglycerols, AP, autophagosome, MVB, multivesicular bodies, Cell biology, Cholesterol, Sphingomyelin Phosphodiesterase, medicine.anatomical_structure, PM, plasma membrane, Monoglycerides, lipids (amino acids, peptides, and proteins), Acid sphingomyelinase, Sphingomyelin, Cholesterol storage, Research Article, AC, acid ceramidase, BafA1, Bafilomycin A1, medicine.drug, autophagy, iPSC, induced pluripotent stem cell, CL, cardiolipin, Mice, Transgenic, Endosomes, Models, Biological, PI, phosphatidylinositol, ER, endoplasmic reticulum, 03 medical and health sciences, FBS, fetal bovine serum, Niemann-Pick C1 Protein, Lysosome, PUFA, polyunsaturated fatty acid, medicine, Animals, Humans, Molecular Biology, SM, sphingomyelin, 030102 biochemistry & molecular biology, Autophagy, ILV, intralumenal vesicle, Cell Biology, Fibroblasts, SMPD1, gene encoding acid sphingomyelinase, Mice, Inbred C57BL, 030104 developmental biology, LAMP1, lysosomal-associated membrane protein, chemistry, Mutation, LY, lysosome, lysobisphosphatidic acid, LE, late endosome, NSC, neural stem cell, Lysophospholipids, NPC1, PFO, perfringolysin O, Lysosomes, EACC, ethyl (2-(5-nitrothiophene-2-carboxamido) thiophene-3-carbonyl) carbamate, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e618060edf1f1a6e72ee553566ccb780
https://doi.org/10.1016/j.jbc.2021.100813

المؤلفون: Breilyn MS; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA., Zhang W; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Yu C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mount Sinai Genomics, Inc, Stamford, CT 06902, USA., Wasserstein MP; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Jul 07; Vol. 28, pp. 100780. Date of Electronic Publication: 2021 Jul 07 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE