about
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisDecreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.Isolated ocular disease is associated with decreased mucolipin-1 channel conductanceClinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cellsTime series proteome profiling to study endoplasmic reticulum stress response.Insertion of mutant proteolipid protein results in missorting of myelin proteins.Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.Free sialic acid storage disease without sialuriaThe cerebral vasculopathy of Fabry disease.Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin CCorrelation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.Cellular and tissue localization of globotriaosylceramide in Fabry disease.Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain
P50
Q24315133-47789A6D-2127-49C3-8488-D388FB6CCEE5Q28000036-FF77ECFC-24A9-4BDA-A3B6-AFFF6D8EF4A7Q28271915-105E4DAE-19FC-49B6-896D-8E80C3D9AF3BQ30962782-B62E1956-804C-4607-BD01-F8157A89A9C2Q34051012-2F27CD6B-4A0C-4F2B-B271-5FD8BAE42B44Q34053196-73CE0F19-8D97-4663-A1C6-48DF3BF25A36Q34132980-9E463B5D-FDEE-4F79-882E-D66A8E918FA7Q34955982-DE8B1381-16F5-46C6-865B-8FE8ED05D6FEQ35945846-05E04DDE-8AA9-434F-9C16-3E4DDAAF95B2Q36116909-49BD6398-E4F7-4E69-B7AB-267999A98570Q36430059-56BE9170-6327-4A74-BFC2-D5990AE7528BQ36760715-BF810680-48C5-42D5-ABD8-733910F1A8EBQ36995447-FA968329-5600-492B-80FB-68C2CAF0DF77Q37131892-EB538329-3234-4778-8B75-C860F3CB6FE0Q40436256-399BD195-C611-4CBA-BCC0-11B86799741FQ40466156-570C88E8-4293-49BF-8FA6-A8497B79B501Q40737657-FA12DEE2-77A5-4EE8-A10B-02B5E5888632Q41679890-36B17ADF-6CC3-48FC-AB80-05E392DB3032Q44321519-B95893CE-7FDF-4F5D-93E8-0340AB77A361Q51979382-846C4A9E-0C51-4ACB-8285-519CEA29A082Q52086009-616CA82A-3AE9-482C-8658-12F6E6750DFBQ52130159-43762A39-3BE3-4EFF-87E6-0A6F79E1A465Q52220552-8B2FCB42-0435-46A1-B9E9-7008DBF4AE51Q52240415-71BA4CFA-4FF4-41DC-9172-5932F35E3E08Q95818600-466D57A7-052E-4CBB-9D82-79F6BFD7A90E
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Christine R. Kaneski
@ast
Christine R. Kaneski
@en
Christine R. Kaneski
@es
Christine R. Kaneski
@nl
Christine R. Kaneski
@sl
type
label
Christine R. Kaneski
@ast
Christine R. Kaneski
@en
Christine R. Kaneski
@es
Christine R. Kaneski
@nl
Christine R. Kaneski
@sl
prefLabel
Christine R. Kaneski
@ast
Christine R. Kaneski
@en
Christine R. Kaneski
@es
Christine R. Kaneski
@nl
Christine R. Kaneski
@sl
P106
P1153
6701776887
P21
P31
P496
0000-0003-1453-2502