scholarly journals In vivoantisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease

Hepatology ◽  
2008 ◽  
Vol 47 (5) ◽  
pp. 1504-1512 ◽  
Author(s):  
Victoria M. Rimkunas ◽  
Mark J. Graham ◽  
Rosanne M. Crooke ◽  
Laura Liscum
Keyword(s):  
Liver Disease ◽  
Mouse Model ◽  
Type C ◽  
Niemann Pick

scholarly journals Recovery from liver disease in a Niemann-Pick type C mouse model

2010 ◽  
Vol 51 (8) ◽  
pp. 2372-2383 ◽  
Author(s):  
Naomi L. Sayre ◽  
Victoria M. Rimkunas ◽  
Mark J. Graham ◽  
Rosanne M. Crooke ◽  
Laura Liscum
Keyword(s):  
Liver Disease ◽  
Mouse Model ◽  
Type C ◽  
Niemann Pick

scholarly journals Vorinostat, a Histone Deacetylase Inhibitor, as a Candidate Therapy to Treat Liver Pathology in a Niemann-Pick type C Disease Mouse Model

2021 ◽  
Author(s):  
◽  
Natalie Hammond
Keyword(s):  
Clinical Trial ◽  
Liver Disease ◽  
Histone Deacetylase ◽  
Histone Deacetylase Inhibitor ◽  
Therapeutic Efficacy ◽  
Premature Death ◽  
Unesterified Cholesterol ◽  
Deacetylase Inhibitor ◽  
Type C ◽  
Niemann Pick

<p>Niemann-Pick type C (NPC) disease is a rare neuro-visceral, lysosomal storage disorder for which no effective therapy yet exists. A recessive mutation in the late endosomal/lysosomal cholesterol transport genes NPC1 (95%) or NPC2 (5%) are the causative factors which leads to an accumulation of unesterified cholesterol and sphingolipids in the late endosome/lysosome. It is a build-up of these lipids that, in the majority of cases, ultimately leads to premature death prior to adolescence. In recent years, an imbalance of histone acetylation in a yeast model of NPC disease and subsequently an increased expression of histone deacetylase genes in NPC patient fibroblasts relative to healthy controls was discovered. This led to the finding that Vorinostat (suberoylanilide hydroxamic acid (SAHA); Zolinza®) a histone deacetylase inhibitor (HDACi) drug, rescued unesterified cholesterol accumulation in NPC patient fibroblasts. From these findings in NPC patient fibroblasts, a Phase I clinical trial testing the efficacy of orally-administered Vorinostat in adult NPC disease patients commenced in 2014; however, the therapeutic efficacy of Vorinostat in a whole animal model of NPC disease has not been investigated and is thus unknown. In this thesis, the therapeutic efficacy of intra-peritoneal administered 150 mg/kg Vorinostat in the Npc1nmf164 mouse was explored. This internationally approved HDACi reduced liver disease by decreasing lipid accumulation without increasing expression of NPC1; however, the treatment did not delay weight loss, onset of ataxia and premature death, possibly due to insufficient concentrations penetrating through the blood brain barrier. Transcriptome analysis suggested Vorinostat improved liver disease in a pleiotropic manner, not surprising given the epigenetic nature of HDACi at the gene expression level. Overall, the results herein are of particular importance to the current clinical trial where the therapeutic efficacy is being investigated without any knowledge of efficacy in an animal of NPC disease.</p>

scholarly journals Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C

2014 ◽  
Vol 15 (4) ◽  
pp. 529-541 ◽  
Author(s):  
Kelly A. King ◽  
Sandra Gordon-Salant ◽  
Karen S. Pawlowski ◽  
Anna M. Taylor ◽  
Andrew J. Griffith ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Model ◽  
Gene Deletion ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Npc1 Gene ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease

1993 ◽  
Vol 123 (2) ◽  
pp. 242-247 ◽  
Author(s):  
Deirdre A. Kelly ◽  
Bernard Portmann ◽  
Alex P. Mowat ◽  
Sheila Sherlock ◽  
Brian D. Lake
Keyword(s):  
Liver Disease ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Decreased purinergic inhibition of synaptic activity in a mouse model of Niemann-Pick disease type C

Hippocampus ◽  
2011 ◽  
Vol 21 (2) ◽  
pp. 212-219 ◽  
Author(s):  
Su-ya Zhou ◽  
Shu-jun Xu ◽  
Ying-gang Yan ◽  
Hui-mei Yu ◽  
Shu-cai Ling ◽  
...  
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Synaptic Activity ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann‐Pick type C disease

2008 ◽  
Vol 22 (10) ◽  
pp. 3617-3627 ◽  
Author(s):  
Alejandra R. Alvarez ◽  
Andres Klein ◽  
Juan Castro ◽  
Gonzalo I. Cancino ◽  
Julio Amigo ◽  
...  
Keyword(s):  
Mouse Model ◽  
Neurological Symptoms ◽  
Imatinib Therapy ◽  
Type C ◽  
Niemann Pick

scholarly journals Heat Shock Protein Beta-1 Modifies Anterior to Posterior Purkinje Cell Vulnerability in a Mouse Model of Niemann-Pick Type C Disease

PLoS Genetics ◽  
2016 ◽  
Vol 12 (5) ◽  
pp. e1006042 ◽  
Author(s):  
Chan Chung ◽  
Matthew J. Elrick ◽  
James M. Dell’Orco ◽  
Zhaohui S. Qin ◽  
Shanker Kalyana-Sundaram ◽  
...  
Keyword(s):  
Heat Shock ◽  
Mouse Model ◽  
Heat Shock Protein ◽  
Purkinje Cell ◽  
Type C ◽  
Niemann Pick

scholarly journals Brainstem neuropathology in a mouse model of Niemann–Pick disease type C

2008 ◽  
Vol 268 (1-2) ◽  
pp. 108-116 ◽  
Author(s):  
Zhuo Luan ◽  
Yoshiaki Saito ◽  
Hajime Miyata ◽  
Eisaku Ohama ◽  
Haruaki Ninomiya ◽  
...  
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

The adenosine A 2A receptor agonist T1–11 ameliorates neurovisceral symptoms and extends the lifespan of a mouse model of Niemann-Pick type C disease

2018 ◽  
Vol 110 ◽  
pp. 1-11 ◽  
Author(s):  
Antonella Ferrante ◽  
Antonella Pezzola ◽  
Andrea Matteucci ◽  
Antonella Di Biase ◽  
Lucilla Attorri ◽  
...  
Keyword(s):  
Mouse Model ◽  
Receptor Agonist ◽  
Type C ◽  
Niemann Pick
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