Results 91 to 100 of about 25,072 (275)

Mechanistic Basis of Cholesterol Binding and Transfer in NPC2: Insights From Molecular Dynamics Simulations

ChemBioChem, Volume 27, Issue 7, 14 April 2026.
A mechanistic basis is proposed for how variation in protein sequence perturbs cholesterol handling in Niemann–Pick type C2 (NPC2) protein. A relatively rigid hydrophobic core stabilizes cholesterol binding, a flexible but coordinated rim enables controlled access and productive transfer of cholesterol, and coordinated loop motions modulate pocket ...
Smit Patel, Nadia Elghobashi‐Meinhardt
wiley   +1 more source

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

Systemic lupus erythematosus, antiphospholipid syndrome and Hashimoto thyroiditis occurring in a patient with Niemann-Pick disease: a second case

The Pan African Medical Journal, 2020
Lysosomial diseases and autoimmune diseases are systemic disorders. Their clinical manifestations can overlap with the broad spectrum of one another. Their association has been rarely reported.
Wafa Baya, Fatma Ben Fredj, Imen Ben Hassine, Jihed Anoun, Anis Mzabi, Monia Karmani, Amel Rezgui, Mohamed Adnane Laatiri, Chedia Laouani Kechrid   +8 more
doaj   +1 more source

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu   +7 more
core   +2 more sources

Plasma Signature of Neurological Disease in the Monogenetic Disorder Niemann-Pick Type C [PDF]

, 2014
Md. Suhail Alam†, Michelle Getz, Sue Y. Yi, Jeffrey L. Kurkewich, Innocent Safeukui, Kasturi Haldar   +5 more
openalex   +1 more source

Potential Niemann-Pick Type C Disease Therapeutics: Synthesis of Pyrrolinones and Enolate-Derived Thiadiazoles, and the Development of a Palladium-Catalyzed Alpha Alkenylation Reaction as a Means to Prepare Trichostatin A

, 2022
Casey C. Cosner
openalex   +1 more source

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

Journal of Lipid Research, 2017
Niemann-Pick type C (NPC) disease is a fatal inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease.
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song   +4 more
doaj   +1 more source

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations [PDF]

, 2011
Robert A. Maue, Robert W. Burgess, Bing Wang, Christine M. Wooley, Kevin L. Seburn, Marie T. Vanier, Maximillian A. Rogers, Catherine C.Y. Chang, Ta‐Yuan Chang, Brent T. Harris, David J. Graber, Carlos A.A. Penatti, Donna M. Porter, Benjamin S. Szwergold, Leslie Henderson, John Totenhagen, Theodore P. Trouard, Ivan A. Borbon, Robert P. Erickson   +18 more
openalex   +1 more source

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation [PDF]

, 2006
Violeta Mihaylova, Janina Hantke, I. Sinigerska, S. Cherninkova, M. Raicheva, Sonja Bouwer, Radka Tincheva, D. Khuyomdziev, Jaume Bertranpetit, David Chandler, Dora Angelicheva, Ivo Kremensky, Pavel Seeman, Ivailo Tournev, Luba Kalaydjieva   +14 more
openalex   +1 more source

Niemann-Pick disease type C [PDF]

Orphanet Journal of Rare Diseases, 1996
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120,000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological involvement defines the disease severity in most patients
openaire   +3 more sources