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Niemann-Pick diseases in adults

La revue de medecine interne, 2007-12, Vol.28 Suppl 4, p.S292-S293

Sedel, F

2007

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in medicine, 2016-01, Vol.18 (1), p.41-48

2016

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Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Cell biochemistry and function, 2024-06, Vol.42 (4), p.e4028-n/a

2024

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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Nature medicine, 2008-11, Vol.14 (11), p.1247-1255

2008

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Niemann-Pick disease type C

Orphanet journal of rare diseases, 2010-06, Vol.5 (1), p.16-16, Article 16

Vanier, Marie T

2010

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.330-344

2012

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Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

Biochimica et biophysica acta. Molecular basis of disease, 2020-10, Vol.1866 (10), p.165875-165875, Article 165875

2020

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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

Human molecular genetics, 2018-06, Vol.27 (12), p.2076-2089

2018

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Potential COVID-19 therapeutics from a rare disease: weaponizing lipid dysregulation to combat viral infectivity

Journal of lipid research, 2020-07, Vol.61 (7), p.972-982

2020

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Annexin A6 modulates TBC1D15/Rab7/StARD3 axis to control endosomal cholesterol export in NPC1 cells

Cellular and molecular life sciences : CMLS, 2020-07, Vol.77 (14), p.2839-2857

2020

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NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

Nature communications, 2019-09, Vol.10 (1), p.4276-14, Article 4276

2019

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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Genetics in medicine, 2023-03, Vol.25 (3), p.100349-100349, Article 100349

2023

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Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3111-3117

2021

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3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport

Proceedings of the National Academy of Sciences - PNAS, 2017-08, Vol.114 (34), p.9116-9121

2017

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Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing

American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63595-n/a

2024

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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.244-254

2016

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Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

Journal of lipid research, 2014-08, Vol.55 (8), p.1609-1621

2014

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Mitochondrial dysfunction in NPC1‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1

FEBS letters, 2024-02, Vol.598 (4), p.477-484

2024

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Lysobisphosphatidic acid (LBPA) enrichment promotes cholesterol egress via exosomes in Niemann Pick type C1 deficient cells

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2021-06, Vol.1866 (6), p.158916-158916, Article 158916

2021

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Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Metabolic brain disease, 2019-10, Vol.34 (5), p.1253-1260

2019

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AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

Human molecular genetics, 2018-09, Vol.27 (17), p.3079-3098

2018

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NPC1 links cholesterol trafficking to microglial morphology via the gastrosome

Nature communications, 2024-10, Vol.15 (1), p.8638-15, Article 8638

2024

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Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.317-326

2024

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Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

Nature communications, 2021-02, Vol.12 (1), p.1158-1158, Article 1158

2021

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Niemann-Pick diseases in adults

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

Niemann-Pick disease type C

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

Potential COVID-19 therapeutics from a rare disease: weaponizing lipid dysregulation to combat viral infectivity

Annexin A6 modulates TBC1D15/Rab7/StARD3 axis to control endosomal cholesterol export in NPC1 cells

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1

3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport

Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

Mitochondrial dysfunction in NPC1‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1

Lysobisphosphatidic acid (LBPA) enrichment promotes cholesterol egress via exosomes in Niemann Pick type C1 deficient cells

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

NPC1 links cholesterol trafficking to microglial morphology via the gastrosome

Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

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