Evolution of enzyme replacement therapy for lipid storage diseases

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse.

Journal of biomedical optics·2012

Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density.

Neuroscience·2004

Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis.

Journal of biochemistry·2001

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease.

Proceedings of the National Academy of Sciences of the United States of America·2001

Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes.

The Journal of biological chemistry·2000

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.

Experimental cell research·2000

Organ crosstalk in kidney diseases: Insights from metabolic, hormonal and nervous regulation.

Life sciences·2026

Melatonin system integrity shapes gut-brain interaction in schizophrenia-derived microbiota transplant phenotype in mice.

Life sciences·2026

SARS-CoV-2 nucleocapsid protein drives pulmonary injury by enhancing GRP75-dependent ER-mitochondria tethering and reprogramming of alveolar macrophages.

Life sciences·2026

MiR-485-5p targets RGS4 to promote angiogenesis in lower limb ischemia by activating VEGFR-2/AKT/ERK1/2 signaling.

Life sciences·2026

Calpain-2 inhibition prevents pressure overload-induced lysosomal cathepsin release and cardiac hypertrophy.

Life sciences·2026

Organelle contact sites as spatial regulators of lipid fate in adipose tissue metabolic disease.

Life sciences·2026

[Crol Promotes EcR Recruitment to Enhancers of Ecdysone- Dependent Genes in Drosophila melanogaster Salivary Glands].

Molekuliarnaia biologiia·2026

Bidirectional regulation between mitochondrial metabolic reprogramming and epigenetic modifications in renal tubular epithelial cell injury of diabetic kidney disease.

Frontiers in endocrinology·2026

Synergistic enhancement of supercapacitor performance in Ce-Bi co-doped CdO: from structural engineering to electrochemical insights.

RSC advances·2026

HCAR1-mediated lactate signaling modulates motor behavior and regulates spontaneous firing in Purkinje cells.

iScience·2026

Cross-Scale Coupling Perspective: A New Pathway to Break the Selectivity Dilemma of Electrocatalytic Energy Conversion Reactions.

Chemistry (Weinheim an der Bergstrasse, Germany)·2026

The GCN2-ATF4 signaling axis orchestrates the hepatic transcriptional stress response to short-term sulfur amino acid deprivation.

Journal of molecular biology·2026

Related Experiment Videos

Evolution of enzyme replacement therapy for lipid storage diseases

Related Concept Videos

Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann-Pick type C Mouse.

Neuronal localization and association of Niemann Pick C2 protein (HE1/NPC2) with the postsynaptic density.

Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis.

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease.

Sterol-modulated glycolipid sorting occurs in niemann-pick C1 late endosomes.

Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.

Organ crosstalk in kidney diseases: Insights from metabolic, hormonal and nervous regulation.

Melatonin system integrity shapes gut-brain interaction in schizophrenia-derived microbiota transplant phenotype in mice.

SARS-CoV-2 nucleocapsid protein drives pulmonary injury by enhancing GRP75-dependent ER-mitochondria tethering and reprogramming of alveolar macrophages.

MiR-485-5p targets RGS4 to promote angiogenesis in lower limb ischemia by activating VEGFR-2/AKT/ERK1/2 signaling.

Calpain-2 inhibition prevents pressure overload-induced lysosomal cathepsin release and cardiac hypertrophy.

Organelle contact sites as spatial regulators of lipid fate in adipose tissue metabolic disease.

[Crol Promotes EcR Recruitment to Enhancers of Ecdysone- Dependent Genes in Drosophila melanogaster Salivary Glands].

Bidirectional regulation between mitochondrial metabolic reprogramming and epigenetic modifications in renal tubular epithelial cell injury of diabetic kidney disease.

Synergistic enhancement of supercapacitor performance in Ce-Bi co-doped CdO: from structural engineering to electrochemical insights.

HCAR1-mediated lactate signaling modulates motor behavior and regulates spontaneous firing in Purkinje cells.

Cross-Scale Coupling Perspective: A New Pathway to Break the Selectivity Dilemma of Electrocatalytic Energy Conversion Reactions.

The GCN2-ATF4 signaling axis orchestrates the hepatic transcriptional stress response to short-term sulfur amino acid deprivation.

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Evolution of enzyme replacement therapy for lipid storage diseases

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