Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
about
Niemann-Pick disease type CRegulation of sterol transport between membranes and NPC2Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution.Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 diseaseAccumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transportLipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterationsDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseLysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular ToxicityPathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathwayGenetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transportExtensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkersA novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.Multi-system disorders of glycosphingolipid and ganglioside metabolismNiemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinAccumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cellsTherapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.[International Children's Day]Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.Niemann-Pick type C pathogenesis and treatment: from statins to sugars.Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyMisdiagnosis of Niemann-Pick disease type C as Gaucher diseasePathological roles of the VEGF/SphK pathway in Niemann-Pick type C neuronsGM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice.Altered vitamin E status in Niemann-Pick type C disease.Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.Secondary lipid accumulation in lysosomal disease.A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.Disease and patient characteristics in NP-C patients: findings from an international disease registry.A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skinProteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain.Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice.
P2860
Q21202883-E577B95E-D14E-4CB0-8DF0-1C10284E9A6EQ24316973-80B1728C-3E0B-4C7D-87FA-41B7EFDB731CQ24533508-52A7524F-607F-48AB-B401-49D71873864CQ24533516-0D5B9E1C-5398-4029-8E7E-F41786AF87CCQ27939998-CA9495C1-A834-4E19-954D-10CDCC94221EQ28477793-FE6EAB3E-8364-4681-A1E4-72BD03DCEEB1Q28506553-495E9C1D-CE1E-4CEF-818F-0BA6A2D20577Q28510652-DB146F79-18CC-435E-890B-5A19DCE3D34AQ28551021-442C8DF3-68A7-4DA3-8017-A536D0E90C48Q28555118-D351409D-F2D6-4812-B8E1-081429A89D2DQ28585671-EA8DFCBC-74FE-468D-9990-F0672A555CB3Q28594812-A4B8F53C-BD8B-4BDC-80E5-FB06613B2FE9Q30361304-6F753321-D3B1-46DE-9184-9BF81D1B6A6CQ30430215-EC42C136-AE8B-40CD-B74E-91871F001150Q30458199-7A08319A-4FE9-46A5-B1B0-C21232F871D8Q32001512-20E796AC-A54D-4EC2-95B7-539316EEB6DAQ33707443-7E324DED-2B5E-4173-A875-F90B585695E8Q33902037-67A5FFB4-DF5F-4B0D-999E-2E9EFB078255Q33945068-EFBBD1D3-8D83-4267-9774-4034974185A1Q33947729-D791906E-98B3-477B-9D3A-9E90AF02B7FEQ34069183-2B145807-DBF5-4141-9FE1-646393CAEB65Q34186279-E4DB7BC2-9CD4-4441-84E8-2DCCB2EE6727Q34418494-1256ECE8-AE0B-40C1-95FF-513A6EB24521Q34539778-EAA8F2CA-CFEB-46A6-A50F-BA87D78F1E74Q34544916-6B77845D-A7F1-4389-A527-5F7F77280B3EQ34620362-9C47758E-E6FB-4692-83FC-105FC766CCF4Q34632493-2DF6D53D-4A8F-4BAA-84C0-5F5B38F996ABQ34640755-B61B75BE-F9AA-4B37-BBCA-E670DCF0FDB9Q34647676-48AADCDF-CD79-4BF6-B102-138CE3A9C502Q34677721-126F5FD0-A12E-45E9-BB2C-FD6CFBC5C8AFQ34769812-7D40A14B-F739-4658-A629-B19ECAB5D9D4Q35067280-A2BADF1A-D0D9-4677-8474-56AEBE1A6B81Q35167848-CC357917-BC36-47EE-B1E3-B25AFF080746Q35240940-176267A5-C3F2-4542-9366-3EAEF1C134A9Q35649458-3A135366-46D5-4A6E-9904-1FCA5C1608DDQ35960437-47ABF293-E85D-460B-847E-8437E45CC599Q36572002-A623B0ED-F4DD-442F-97EC-3BEB47654689Q36828054-0FEB3FC8-9E63-49F2-BE95-39750FA2F65DQ36837310-8F36A858-59CE-404C-866C-1066D02BB209Q36852911-D0AEB170-1A91-4288-B9D6-45FAF1B540D5
P2860
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Lipid changes in Niemann-Pick ...... and review of the literature.
@ast
Lipid changes in Niemann-Pick ...... and review of the literature.
@en
type
label
Lipid changes in Niemann-Pick ...... and review of the literature.
@ast
Lipid changes in Niemann-Pick ...... and review of the literature.
@en
prefLabel
Lipid changes in Niemann-Pick ...... and review of the literature.
@ast
Lipid changes in Niemann-Pick ...... and review of the literature.
@en
P356
P1476
Lipid changes in Niemann-Pick ...... and review of the literature.
@en
P2093
P2888
P304
P356
10.1023/A:1022575511354
P577
1999-04-01T00:00:00Z
P6179
1039672057