{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T13:31:14Z","timestamp":1777555874995,"version":"3.51.4"},"reference-count":42,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2011,12,6]],"date-time":"2011-12-06T00:00:00Z","timestamp":1323129600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0028418","type":"journal-article","created":{"date-parts":[[2011,12,6]],"date-time":"2011-12-06T21:58:16Z","timestamp":1323208696000},"page":"e28418","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":7,"title":["Corneal Alterations during Combined Therapy with Cyclodextrin\/Allopregnanolone and Miglustat in a Knock-Out Mouse Model of NPC1 Disease"],"prefix":"10.1371","volume":"6","author":[{"given":"Marine","family":"Hovakimyan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabian","family":"Maass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Reichard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Witt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lukas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Stachs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Guthoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Wree","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2011,12,6]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/S0016-5085(65)80041-5","article-title":"Inborn lysosomal diseases.","volume":"48","author":"HG Hers","year":"1965","journal-title":"Gastroenterology"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1007\/s10545-010-9093-7","article-title":"The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.","volume":"33","author":"H Poupetov\u00e1","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1034\/j.1399-0004.2003.00147.x","article-title":"Niemann-Pick disease type C.","volume":"64","author":"MT Vanier","year":"2003","journal-title":"Clin Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1086\/302626","article-title":"Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.","volume":"65","author":"G Millat","year":"1999","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/00041433-199804000-00009","article-title":"Niemann-Pick disease type C.","volume":"9","author":"L Liscum","year":"1998","journal-title":"Curr Opin Lipidol"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/S0039-128X(02)00042-9","article-title":"Sterols and intracellular vesicular trafficking: lessons from the study of NPC1.","volume":"67","author":"JF Strauss 3rd","year":"2002","journal-title":"Steroids"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1399-0004.1988.tb03460.x","article-title":"Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.","volume":"33","author":"MT Vanier","year":"1988","journal-title":"Clin Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1750-3639.1998.tb00143.x","article-title":"Recent advances in elucidating Niemann-Pick C disease.","volume":"8","author":"MT Vanier","year":"1998","journal-title":"Brain Pathol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00685003","article-title":"Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.","volume":"43","author":"K Harzer","year":"1978","journal-title":"Acta Neuropathol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF00690966","article-title":"Niemann-Pick disease type C: study on the nature of the cerebral storage process.","volume":"66","author":"M Elleder","year":"1985","journal-title":"Acta Neuropathol Berl"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/BF00309338","article-title":"Neurofibrillary tangles in Niemann-Pick disease type C.","volume":"89","author":"K Suzuki","year":"1995","journal-title":"Acta Neuropathol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","article-title":"Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.","volume":"249","author":"C Iturriaga","year":"2006","journal-title":"J Neurol Sci"},{"key":"ref13","first-page":"5","article-title":"Niemann-Pick disease type C.","volume":"3","author":"MT Vanier","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1126\/science.1093131","article-title":"Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption.","volume":"303","author":"SW Altmann","year":"2004","journal-title":"Science"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/S0002-9440(10)63347-0","article-title":"Cyclin-dependent kinase inhibitors attenuate protein hyperphosphorylation, cytoskeletal lesion formation, and motor defects in Niemann-Pick Type C mice.","volume":"165","author":"M Zhang","year":"2004","journal-title":"Am J Pathol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1111\/j.1471-4159.2008.05657.x","article-title":"Mitogen-activated protein kinase activity may not be necessary for the neuropathology of Niemann-Pick type C mice.","volume":"107","author":"M Zhang","year":"2008","journal-title":"J Neurochem"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","article-title":"Critical role for glycosphingolipids in Niemann-Pick disease type C.","volume":"11","author":"M Zervas","year":"2001","journal-title":"Curr Biol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.nbd.2004.05.002","article-title":"Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.","volume":"16","author":"RH Lachmann","year":"2004","journal-title":"Neurobiol Dis"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1007\/s10545-007-0630-y","article-title":"Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.","volume":"30","author":"YH Chien","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study.","volume":"6","author":"MC Patterson","year":"2007","journal-title":"Lancet Neurol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ymgme.2009.07.003","article-title":"Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.","volume":"98","author":"M Pineda","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.ymgme.2009.12.006","article-title":"Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial.","volume":"99","author":"JE Wraith","year":"2010","journal-title":"Mol Genet Metab"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/nm1073","article-title":"Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone.","volume":"10","author":"LD Griffin","year":"2004","journal-title":"Nat Med"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"13807","DOI":"10.1073\/pnas.0606218103","article-title":"Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease.","volume":"103","author":"SJ Langmade","year":"2006","journal-title":"Prot Natl Acad Sci USA"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"e6951","DOI":"10.1371\/journal.pone.0006951","article-title":"Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.","volume":"4","author":"CD Davidson","year":"2009","journal-title":"PLoS One"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1097\/ICO.0b013e3182012a33","article-title":"Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1.","volume":"30","author":"M Hovakimyan","year":"2011","journal-title":"Cornea"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1126\/science.277.5323.232","article-title":"Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.","volume":"277","author":"SK Loftus","year":"1997","journal-title":"Science"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.nbd.2011.01.028","article-title":"Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis.","volume":"42","author":"A Nunes","year":"2011","journal-title":"Neurobiol Dis"},{"key":"ref29","first-page":"140","article-title":"Lysosome lipid storage disorder in NCTR-BALB\/c mice. I. Description of the disease and genetics.","volume":"108","author":"MD Morris","year":"1982","journal-title":"Am J Pathol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"11992","DOI":"10.1073\/pnas.96.21.11992","article-title":"Cholesterol accumulation in tissues of the Niemann-pick type C mouse is determined by the rate of lipoprotein-cholesterol uptake through the coated-pit pathway in each organ.","volume":"96","author":"C Xie","year":"1999","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"10314","DOI":"10.1074\/jbc.M009733200","article-title":"Site-specific phosphorylation of tau accompanied by activation of mitogen-activated protein kinase (MAPK) in brains of Niemann-Pick type C mice.","volume":"276","author":"N Sawamura","year":"2001","journal-title":"J Biol Chem"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.mcn.2009.10.007","article-title":"Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina.","volume":"43","author":"T Claudepierre","year":"2009","journal-title":"Mol Cell Neurosci"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1212\/01.wnl.0000345040.01917.9d","article-title":"Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.","volume":"72","author":"LA Abel","year":"2009","journal-title":"Neurology"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1016\/S0161-6420(78)35592-5","article-title":"Ophthalmologic aspects of lipid storage diseases.","volume":"85","author":"RO Brady","year":"1978","journal-title":"Ophthalmology"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1097\/ICU.0b013e32831215c3","article-title":"Ocular manifestation of storage diseases.","volume":"19","author":"J Biswas","year":"2008","journal-title":"Curr Opin Ophthalmol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1001\/archopht.1985.01050060077030","article-title":"Niemann-Pick disease\u2013type C. Ocular histopathologic and electron microscopic studies.","volume":"103","author":"M Palmer","year":"1985","journal-title":"Arch Ophthalmol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/0002-9394(72)90736-2","article-title":"Niemann-Pick disease (type C). Histopathology and ultrastructure.","volume":"74)","author":"JM Emery","year":"1972","journal-title":"Am J Ophthalmol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1097\/01.ico.0000126331.84852.f6","article-title":"Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease.","volume":"23","author":"WA Herrmann","year":"2004","journal-title":"Cornea"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s00417-008-0962-9","article-title":"The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study.","volume":"247","author":"K Falke","year":"2009","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1097\/ICO.0b013e318199eb5b","article-title":"Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.","volume":"28","author":"R Tavares","year":"2009","journal-title":"Cornea"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2009.04.013","article-title":"Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.","volume":"97","author":"GH Maegawa","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.clae.2010.08.007","article-title":"Increased Langerhan cell density and corneal nerve damage in diabetic patients: role of immune mechanisms in human diabetic neuropathy.","volume":"34","author":"M Tavakoli","year":"2010","journal-title":"Cont Lens Anterior Eye"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0028418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T00:34:58Z","timestamp":1588984498000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0028418"}},"subtitle":[],"editor":[{"given":"Amy C. Y.","family":"Lo","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2011,12,6]]},"references-count":42,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2011,12,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0028418","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,6]]}}}