Treatment trials in Niemann-Pick type C disease

Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells

(2020) Sanzana Hoque et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

(2020) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

(2019) Mercedes Pineda et al.   Orphanet Journal of Rare Diseases

Newborn presentation of Niemann–Pick disease type C – Difficulties and limitations of diagnostic methods

(2018) Patryk Lipiński et al.   Pediatrics and Neonatology

Heat shock protein-based therapy for sphingolipidoses

(2017) Thomas Kirkegaard et al.   MOLECULAR GENETICS AND METABOLISM

Niemann–Pick type C: focus on the adolescent/adult onset form

(2016) Vincenzo Di Lazzaro et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Normalization of Hepatic Homeostasis in theNpc1nmf164Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat

(2016) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

(2016) Md. Suhail Alam et al.   Science Translational Medicine

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

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

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

(2015) Charles H. Vite et al.   Science Translational Medicine

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations

(2014) Judit Macías-Vidal et al.   FEBS Journal

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

(2014) Ian M. Williams et al.   NEUROBIOLOGY OF DISEASE

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa

(2014) D A Parfitt et al.   Cell Death & Disease

Current controversies in Niemann–Pick C1 disease: steroids or gangliosides; neurons or neurons and glia

(2013) Robert P. Erickson   JOURNAL OF APPLIED GENETICS

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol

(2013) Bernadett Kalmar et al.   PHARMACOLOGY & THERAPEUTICS

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Arimoclomol: a potential therapy under development for ALS

(2009) Veena Lanka et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Amelioration of enteric neuropathology in a mouse model of Niemann-Pick C by Npc1 expression in enteric glia

(2009) Raj Kapur et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

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

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span ofNpc1-/-mice

(2008) Min Zhang et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis

(2008) Merit E. Cudkowicz et al.   MUSCLE & NERVE