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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 type C disease: an early diagnosis for a therapeutic hope

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 Suppl 2, p.S39-S40

Ogier de Baulny, H

2010

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Miglustat in Niemann-Pick disease type C patients: a review

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.140-140, Article 140

2018

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The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2019-08, Vol.1864 (8), p.1109-1123

2019

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Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

International Journal of Molecular Sciences, 2016-07, Vol.17 (7), p.1065-1065

2016

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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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Movement Disorders in Treatable Inborn Errors of Metabolism

Movement disorders, 2019-05, Vol.34 (5), p.598-613

2019

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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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AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of lipid research, 2017-03, Vol.58 (3), p.512-518

2017

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Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration

Biochimica et biophysica acta. Molecular basis of disease, 2024-03, Vol.1870 (3), p.166993-166993, Article 166993

2024

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Consensus clinical management guidelines for Niemann-Pick disease type C

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.50-50, Article 50

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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Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1

Human gene therapy, 2021-06, Vol.32 (11-12), p.589

2021

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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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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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Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Science translational medicine, 2015-02, Vol.7 (276), p.276ra26

2015

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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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Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

Journal of neurochemistry, 2011-03, Vol.116 (5), p.789-795

2011

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HPGCD Outperforms HPBCD as a Potential Treatment for Niemann‐Pick Disease Type C During Disease Modeling with iPS Cells

Stem cells (Dayton, Ohio), 2015-04, Vol.33 (4), p.1075-1088

2015

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Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4392

2019

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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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Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C

The New England journal of medicine, 2024-02, Vol.390 (5), p.421-431

2024

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

Niemann-Pick type C disease: an early diagnosis for a therapeutic hope

Miglustat in Niemann-Pick disease type C patients: a review

The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders

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

Movement Disorders in Treatable Inborn Errors of Metabolism

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

Niemann-Pick disease type C

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration

Consensus clinical management guidelines for Niemann-Pick disease type C

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

Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1

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

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

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

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

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann‐Pick Disease Type C During Disease Modeling with iPS Cells

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1

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

Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C

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