4.4 Article

Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Biochemistry & Molecular Biology

Cerebrospinal fluid outflow: a review of the historical and contemporary evidence for arachnoid villi, perineural routes, and dural lymphatics

Steven T. Proulx

Summary: Cerebrospinal fluid is produced in the ventricles of the brain and circulates through the subarachnoid space of the skull and spinal column to provide buoyancy and maintain fluid homeostasis. Recent studies challenge the traditional belief that CSF drains through arachnoid villi, suggesting it may instead flow through lymphatic vessels.

CELLULAR AND MOLECULAR LIFE SCIENCES (2021)

Article Biochemistry & Molecular Biology

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics

Jorge L. Rodriguez-Gil et al.

Summary: The study analyzed RNA-Seq data from 42 NPC1 patient-derived fibroblast cell lines and identified 485 HP beta CD-responsive genes, showing significant involvement in cholesterol and lipid biosynthesis pathways. Experimental results in mice suggested that a gene, GPNMB, may serve as a useful biomarker of treatment response in NPC1 disease.

HUMAN MOLECULAR GENETICS (2021)

Review Biochemistry & Molecular Biology

Neurodegeneration in Niemann-Pick Type C Disease: An Updated Review on Pharmacological and Non-Pharmacological Approaches to Counteract Brain and Cognitive Impairment

Ida Cariati et al.

Summary: Niemann-Pick type C (NPC) disease is an autosomal recessive storage disorder characterized by abnormal sequestration of unesterified cholesterol, leading to progressive neurological deterioration and various symptoms. Although the underlying pathophysiological mechanisms are not well understood, a combination of current pharmacological therapies and non-pharmacological approaches may help improve the quality of life for NPC patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Endocrinology & Metabolism

Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States

Barbara K. Burton et al.

Summary: Niemann-Pick Disease Type C is an ultra-rare progressive neurodegenerative disease with approximately 1 per million people diagnosed with or treated off-label for NPC in the United States. The estimated prevalence of NPC is around 2.9 cases per million people based on epidemiology calculations.

MOLECULAR GENETICS AND METABOLISM (2021)

Review Biochemistry & Molecular Biology

Niemann-Pick type C disease: cellular pathology and pharmacotherapy

Simon Wheeler et al.

JOURNAL OF NEUROCHEMISTRY (2020)

Article Biochemistry & Molecular Biology

New variants in Spanish Niemann-Pick type c disease patients

Laura Lopez de Frutos et al.

MOLECULAR BIOLOGY REPORTS (2020)

Review Genetics & Heredity

Consensus clinical management guidelines for Niemann-Pick disease type C

Tarekegn Geberhiwot et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

Article Clinical Neurology

Long-Term Treatment of Niemann-Pick Type Cl Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin

Elizabeth Berry-Kravis et al.

PEDIATRIC NEUROLOGY (2018)

Review Clinical Neurology

Recommendations for the detection and diagnosis of Niemann-Pick disease type C An update

Marc C. Patterson et al.

NEUROLOGY-CLINICAL PRACTICE (2017)

Review Pharmacology & Pharmacy

CSF, blood-brain barrier, and brain drug delivery

William M. Pardridge

EXPERT OPINION ON DRUG DELIVERY (2016)

Article Acoustics

Shear Wave Elastography for Evaluation of Liver Fibrosis

Giovanna Ferraioli et al.

JOURNAL OF ULTRASOUND IN MEDICINE (2014)

Review Biochemistry & Molecular Biology

Therapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease

Benny Liu

CLINICAL LIPIDOLOGY (2012)

Review Chemistry, Medicinal

Cyclodextrins as functional excipients: Methods to enhance complexation efficiency

Thorsteinn Loftsson et al.

JOURNAL OF PHARMACEUTICAL SCIENCES (2012)

Review Endocrinology & Metabolism

Gastrointestinal disturbances and their management in miglustat-treated patients

Nadia Belmatoug et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Article Biochemistry & Molecular Biology

Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations

Charina M. Ramirez et al.

JOURNAL OF LIPID RESEARCH (2011)

Review Genetics & Heredity

Niemann-Pick disease type C

Marie T. Vanier

ORPHANET JOURNAL OF RARE DISEASES (2010)

Review Biochemistry & Molecular Biology

Secondary lipid accumulation in lysosomal disease

Steven U. Walkley et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)

Editorial Material Endocrinology & Metabolism

Recommendations on the diagnosis and management of Niemann-Pick disease type C

James E. Wraith et al.

MOLECULAR GENETICS AND METABOLISM (2009)

Article Multidisciplinary Sciences

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

Benny Liu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Biochemistry & Molecular Biology

Genetic variations and treatments that affect the lifespan of the NPC1 mouse

Benny Liu et al.

JOURNAL OF LIPID RESEARCH (2008)

Article Clinical Neurology

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Marc C. Patterson et al.

LANCET NEUROLOGY (2007)

Review Pharmacology & Pharmacy

Cyclodextrins as pharmaccutical solubilizers

Marcus E. Brewster et al.

ADVANCED DRUG DELIVERY REVIEWS (2007)

Letter Clinical Neurology

Niemann-Pick type C disease in a 68-year-old patient

G. Trendelenburg et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2006)

Article Biochemistry & Molecular Biology

Determination of 24S-and 27-hydroxycholesterol in plasma by high-performance liquid chromatography-mass spectrometry

I Burkard et al.

JOURNAL OF LIPID RESEARCH (2004)

Review Biochemistry & Molecular Biology

Control of cholesterol turnover in the mouse

JM Dietschy et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2002)

Article Medicine, Research & Experimental

Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease

F Camargo et al.

LIFE SCIENCES (2001)