scholarly journals Gastrointestinal Tract Pathology in a BALB/c Niemann–Pick Disease Type C1 Null Mouse Model

2018 ◽  
Vol 63 (4) ◽  
pp. 870-880 ◽  
Author(s):  
Antony Cougnoux ◽  
Miyad Movassaghi ◽  
Jaqueline A. Picache ◽  
James R. Iben ◽  
Fatemeh Navid ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Mouse Model ◽  
Disease Type ◽  
Null Mouse ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals The Effects of Combined Therapy With Metformin and Hydroxypropyl-β-Cyclodextrin in a Mouse Model of Niemann-Pick Disease Type C1

2022 ◽  
Vol 12 ◽  
Author(s):  
Jiang Du ◽  
Xinlei Liu ◽  
Yan Zhang ◽  
Xiaojing Han ◽  
Chunya Ma ◽  
...  
Keyword(s):  
Body Weight ◽  
Inflammatory Response ◽  
Mouse Model ◽  
Survival Time ◽  
Free Cholesterol ◽  
Disease Type ◽  
The Body ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

Niemann–Pick disease type C1 (NPC1) is a neurodegenerative disorder characterized by lysosomal storage of free cholesterol. 2-Hydroxypropyl-β-cyclodextrin (HPβCD) is a cyclic oligosaccharide derivative that is being developed to treat NPC1. Recently, metformin was reported to be beneficial in various neurodegenerative diseases, such as Alzheimer’s and Huntington’s diseases. In this study, we examined the effects of combined treatment with HPβCD and metformin on Npc1−/− mice. Unfortunately, body weight and survival rates showed that cotreatment with metformin did not extend survival time and increase the body weight of HPβCD-treated Npc1−/− mice. However, cotreatment with metformin reduced inflammatory response and inhibited the proinflammatory cytokine release in the brain, liver and spleen of HPβCD-treated Npc1−/− mice. Furthermore, metformin did not reduce the free cholesterol levels in Npc1−/− brain tissue or fibroblasts. In conclusion, our results demonstrate that metformin does not show beneficial effects on body weight or survival time but reduced the inflammatory response in a mouse model of NPC1 when combined with HPβCD.

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

scholarly journals Evaluation of Two Liver Treatment Strategies in a Mouse Model of Niemann–Pick-Disease Type C1

2018 ◽  
Vol 19 (4) ◽  
pp. 972 ◽  
Author(s):  
Lynn Ebner ◽  
Anne Gläser ◽  
Anja Bräuer ◽  
Martin Witt ◽  
Andreas Wree ◽  
...  
Keyword(s):  
Mouse Model ◽  
Treatment Strategies ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
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

scholarly journals Adeno-associated viral vector serotype 9–based gene therapy for Niemann-Pick disease type A

2019 ◽  
Vol 11 (506) ◽  
pp. eaat3738 ◽  
Author(s):  
Lluis Samaranch ◽  
Azucena Pérez-Cañamás ◽  
Beatriz Soto-Huelin ◽  
Vivek Sudhakar ◽  
Jerónimo Jurado-Arjona ◽  
...  
Keyword(s):  
Mouse Model ◽  
Viral Vector ◽  
Type A ◽  
Disease Type ◽  
Acid Sphingomyelinase ◽  
Lysosomal Storage ◽  
Loss Of Function ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

Niemann-Pick disease type A (NPD-A) is a lysosomal storage disorder characterized by neurodegeneration and early death. It is caused by loss-of-function mutations in the gene encoding for acid sphingomyelinase (ASM), which hydrolyzes sphingomyelin into ceramide. Here, we evaluated the safety of cerebellomedullary (CM) cistern injection of adeno-associated viral vector serotype 9 encoding human ASM (AAV9-hASM) in nonhuman primates (NHP). We also evaluated its therapeutic benefit in a mouse model of the disease (ASM-KO mice). We found that CM injection in NHP resulted in widespread transgene expression within brain and spinal cord cells without signs of toxicity. CM injection in the ASM-KO mouse model resulted in hASM expression in cerebrospinal fluid and in different brain areas without triggering an inflammatory response. In contrast, direct cerebellar injection of AAV9-hASM triggered immune response. We also identified a minimally effective therapeutic dose for CM injection of AAV9-hASM in mice. Two months after administration, the treatment prevented motor and memory impairment, sphingomyelin (SM) accumulation, lysosomal enlargement, and neuronal death in ASM-KO mice. ASM activity was also detected in plasma from AAV9-hASM CM-injected ASM-KO mice, along with reduced SM amount and decreased inflammation in the liver. Our results support CM injection for future AAV9-based clinical trials in NPD-A as well as other lysosomal storage brain disorders.

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

2009 ◽  
Vol 36 (2) ◽  
pp. 242-251 ◽  
Author(s):  
David Smith ◽  
Kerri-Lee Wallom ◽  
Ian M. Williams ◽  
Mylvaganam Jeyakumar ◽  
Frances M. Platt
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Beneficial Effects ◽  
Niemann Pick Disease ◽  
Anti Inflammatory ◽  
Niemann Pick ◽  
Pick Disease

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

Morphological Alterations of the Cornea in the Mouse Model of Niemann–Pick Disease Type C1

Cornea ◽  
2011 ◽  
Vol 30 (7) ◽  
pp. 796-803 ◽  
Author(s):  
Marine Hovakimyan ◽  
Oliver Stachs ◽  
Maria Reichard ◽  
Hermann Mascher ◽  
Jan Lukas ◽  
...  
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Morphological Alterations ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

Hepatic and neuronal phenotype of the murine Niemann-Pick disease type C mouse model NPC1 -/-

2018 ◽  
Vol 123 (2) ◽  
pp. S47
Author(s):  
Stefanie Flunkert ◽  
Ewald Auer ◽  
Roland Rabl ◽  
Tina Loeffler ◽  
Joerg Neddens ◽  
...  
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Neuronal Phenotype ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann–Pick disease type C

Development ◽  
2020 ◽  
Vol 147 (21) ◽  
pp. dev189019
Author(s):  
Bridget R. Boyle ◽  
Sierra E. Melli ◽  
Ruth S. Altreche ◽  
Zachary M. Padron ◽  
Fawad A. K. Yousufzai ◽  
...  
Keyword(s):  
Mouse Model ◽  
Postnatal Development ◽  
Disease Type ◽  
Climbing Fiber ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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