List of works - Christine R. Kaneski

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

scientific article published on 3 August 2007

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

scientific article

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

scientific article published on January 2004

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

scientific article

Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.

scientific article

Free sialic acid storage disease without sialuria

scientific article

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

scientific article published on 15 August 2008

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

scientific article published in July 2001

Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain

scientific article published in 2005

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

scientific article

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance

scientific article

Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

scientific article published in January 1994

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

scientific article

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

scientific article published in March 2003

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

scientific article

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

scientific article published on September 2008

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C

scientific article

The cerebral vasculopathy of Fabry disease.

scientific article published on 23 March 2007

Time series proteome profiling to study endoplasmic reticulum stress response.

scientific article

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

scientific article published in December 2004

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

scientific article

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.

scientific article published on June 1991

Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes

scientific article published in August 1990

Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.

scientific article

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells

scientific article

List of works by Christine R. Kaneski

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.

Free sialic acid storage disease without sialuria

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance

Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

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 C

The cerebral vasculopathy of Fabry disease.

Time series proteome profiling to study endoplasmic reticulum stress response.

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

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.

Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes

Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells