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01/2014
Objective: Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of... 
Acid sphingomyelinase-1 | Niemann Pick disease | Mutation | SMPD1 Gene
Web Resource
Revue Neurologique, ISSN 0035-3787, 04/2018, Volume 174, pp. S122 - S122
Journal Article
Mutation Research-Reviews in Mutation Research, ISSN 1383-5742, 10/2019, Volume 782, p. 108284
Niemann–Pick C disease (NPC) is a rare autosomal recessive disorder characterized by severe neurodegeneration of central nervous system. Linkage studies in... 
Cholesterol transport | Niemann–Pick C disease | Mutation | NPC2
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 09/2016, Volume 57, Issue 9, pp. 1644 - 1658
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 2, pp. e0192424 - e0192424
[This corrects the article DOI: 10.1371/journal.pone.0175478.]. 
Niemann-Pick disease | Cyclodextrin | Cyclodextrins | Medical treatment
Journal Article
Encephale, ISSN 0013-7006, 06/2016, Volume 42, Issue 3, pp. 208 - 213
Introduction. - Niemann-Pick type C disease (NPC) is a rare genetic disease with an extremely heterogeneous clinical presentation. The adult form of this... 
Niemann-Pick disease type C | Psychiatric disorders
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 466 - 469
Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disease affecting the visceral organs and the central nervous system. The age of... 
NPC | Niemann-Pick disease, type C | Lysosomal storage disease
Journal Article
Science, ISSN 0036-8075, 02/2015, Volume 347, Issue 6225, pp. 995 - 998
Ebola virus causes sporadic outbreaks of lethal hemorrhagic fever in humans, but there is no currently approved therapy. Cells take up Ebola virus by... 
NIEMANN-PICK C1 | NAADP | MULTIDISCIPLINARY SCIENCES | CALCIUM | TETRANDRINE | INFECTION | MICE | IDENTIFICATION | Ebola virus | Antiviral agents | Care and treatment | Cellular biology | Medical treatment | Therapy | Inhibitors | Calcium | Viral diseases | Viruses | Outbreaks | Mice | Channels
Journal Article
ChemMedChem, ISSN 1860-7179, 08/2019, Volume 14, Issue 16, pp. 1466 - 1466
The Front Cover depicts two horses (taken by the lead author J.S.) that look like they are “joined at the hips.” Although they look “connected,” each horse... 
antioxidant | Niemann–Pick | protein aggregation | deferasirox | iron complexes
Journal Article
JOURNAL OF CELL BIOLOGY, ISSN 0021-9525, 06/2009, Volume 185, Issue 7, pp. 1209 - 1225
Late endosomes (LEs) have characteristic intracellular distributions determined by their interactions with various motor proteins. Motor proteins associated to... 
LIFETIME IMAGING MICROSCOPY | NIEMANN-PICK-DISEASE | KINESIN | INTRACELLULAR-TRANSPORT | MEDIATED ENDOCYTOSIS | LOW-DENSITY LIPOPROTEIN | ENDOPLASMIC-RETICULUM | RAB PROTEINS | MEMBRANE-TRANSPORT | OXYSTEROL-BINDING PROTEIN | CELL BIOLOGY
Journal Article
European Journal of Haematology, ISSN 0902-4441, 11/2018, Volume 101, Issue 5, pp. 707 - 708
Journal Article
Acta Reumatologica Portuguesa, ISSN 0303-464X, 2016, Volume 2016, Issue 3, pp. 260 - 264
Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism... 
Sphingolipids | Myositis ossificans | Niemann-Pick | sphingolipids | myositis ossificans
Journal Article
National Medical Journal of China, ISSN 0376-2491, 01/2018, Volume 98, Issue 4, pp. 284 - 288
Journal Article
Revue Neurologique, ISSN 0035-3787, 03/2017, Volume 173, pp. S141 - S141
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2017, Volume 7
We present the structure of the surface Ebola virus (EBOV) trimeric glycoprotein (GP) spike at 11 angstrom resolution, in situ within the viral plasma membrane... 
ENTRY REQUIRES | VISUALIZATION | ANTIBODIES | SYSTEM | NIEMANN-PICK C1 | ORIENTATION | MULTIDISCIPLINARY SCIENCES | GP2 | MICROSCOPY | NEUTRALIZATION | VP40
Journal Article
Journal of Medicinal Chemistry, ISSN 0022-2623, 07/2018, Volume 61, Issue 14, pp. 6293 - 6307
Previous studies identified an adamantane dipeptide piperazine 3.47 that inhibits Ebola virus (EBOV) infection by targeting the essential receptor Niemann-Pick... 
TARGET | DRUG | NIEMANN-PICK C1 | CHEMISTRY, MEDICINAL | SMALL-MOLECULE INHIBITORS | REQUIRES | INFECTION | GLYCOPROTEIN | DISCOVERY | INSIGHTS | Index Medicus
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 02/2018, Volume 110, pp. 1 - 11
Niemann-Pick C is a fatal neurovisceral disorder caused, in 95% of cases, by mutation of gene. Therapeutic options are extremely limited and new “druggable”... 
T1–11 | Adenosine A2A receptor | Niemann-Pick C | Cholesterol | receptor | Adenosine A | Index Medicus
Journal Article
Netherlands Journal of Medicine, ISSN 0300-2977, 2015, Volume 73, Issue 9, pp. 441 - 442
Journal Article
Journal of Agricultural and Food Chemistry, ISSN 0021-8561, 2017, Volume 65, Issue 2, pp. 276 - 280
Journal Article
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