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

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

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 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

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

Molecular Cloning of the Mouse Apolipoprotein D Gene and Its Upregulated Expression in Niemann-Pick Disease Type C Mouse Model

1996 ◽  
Vol 15 (10) ◽  
pp. 873-882 ◽  
Author(s):  
KUNIHIRO YOSHIDA ◽  
EMILY S. CLEAVELAND ◽  
JAMES W. NAGLE ◽  
STEFANIE FRENCH ◽  
LINDA YASWEN ◽  
...  
Keyword(s):  
Mouse Model ◽  
Molecular Cloning ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Apolipoprotein D ◽  
Niemann Pick ◽  
Pick Disease

Decreased estradiol release from astrocytes contributes to the neurodegeneration in a mouse model of Niemann-Pick disease type C

Glia ◽  
2007 ◽  
Vol 55 (15) ◽  
pp. 1509-1518 ◽  
Author(s):  
Gang Chen ◽  
Hai-Min Li ◽  
Yi-Ren Chen ◽  
Xiao-Song Gu ◽  
Shumin Duan
Keyword(s):  
Mouse Model ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

2017 ◽  
Vol 2 ◽  
pp. 76 ◽  
Author(s):  
Elena-Raluca Nicoli ◽  
David Smith ◽  
Lauren Morris ◽  
Frances M. Platt
Keyword(s):  
Bile Acid ◽  
Mouse Model ◽  
Acid Treatment ◽  
Disease Type ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Cholanic Acid ◽  
Pick Disease

Niemann-Pick disease type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in the NPC1 or NPC2 genes. Liver disease is also a common feature of NPC that can present as cholestatic jaundice in the neonatal period. Liver enzymes can remain elevated above the normal range in some patients as they age. We recently reported suppression of the P450 detoxification system in a mouse model of NPC disease and in post-mortem liver from NPC patients. As bile acids regulate the P450 system, we tested bile acid treatment using ursodeoxycholic acid (UDCA; 3α, 7β-dihydroxy-5β-cholanic acid), a hydrophilic bile acid, which is used to treat several cholestatic disorders. In this study, we compared UDCA treatment with the bile acid cholic acid (CA), and found unexpected hepatotoxicity in response to CA in Npc1 mice, but not to UDCA, suggesting that only UDCA should be used as an adjunctive therapy in NPC patients.

scholarly journals Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

2018 ◽  
Vol 2 ◽  
pp. 76
Author(s):  
Elena-Raluca Nicoli ◽  
Mylene Huebecker ◽  
David Smith ◽  
Lauren Morris ◽  
Frances M. Platt
Keyword(s):  
Bile Acid ◽  
Mouse Model ◽  
Disease Type ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Npc Mouse ◽  
Cholanic Acid ◽  
Pick Disease

Niemann-Pick disease type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in the NPC1 or NPC2 genes. Liver disease is also a common feature of NPC that can present as cholestatic jaundice in the neonatal period. Liver enzymes can remain elevated above the normal range in some patients as they age. We recently reported suppression of the P450 detoxification system in a mouse model of NPC disease and also in post-mortem liver from NPC patients. We demonstrated the ability of the hydrophobic bile acid ursodeoxycholic acid (UDCA) (3α, 7β-dihydroxy-5β-cholanic acid) to correct the P450 system suppression. UDCA is used to treat several cholestatic disorders and was tested in NPC due to the P450 system being regulated by bile acids. Here, we compare the effect of UDCA and cholic acid (CA), another bile acid, in the NPC mouse model. We observed unexpected hepatotoxicity in response to CA treatment of NPC mice. No such hepatotoxicity was associated with UDCA treatment. These results suggest that CA treatment is contraindicated in NPC patients, whilst supporting the use of UDCA as an adjunctive therapy in NPC patients.

Specific neural cell death in the mouse model of niemann-pick disease type C

1998 ◽  
Vol 31 ◽  
pp. S341
Author(s):  
Atsuko Yamada ◽  
Makoto Saji ◽  
Haruaki Ninomiya ◽  
Kousaku Ohno
Keyword(s):  
Cell Death ◽  
Mouse Model ◽  
Neural Cell ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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