Results 111 to 120 of about 30,962 (231)

Two Norms Collide: EU Policy on Fragile and Conflict‐Affected Countries

JCMS: Journal of Common Market Studies, Volume 64, Issue 3, Page 1223-1237, May 2026.
Abstract The European Union's (EU's) policy towards fragile and conflict‐affected (FCA) countries has been framed by a normative solidarity narrative that promotes and legitimises collective action. Over the past two decades, the EU's commitment to protecting the security of its citizens has increasingly become a strong, competing normative driver of ...
Julian Bergmann, Mark Furness
wiley   +1 more source

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

BMC Infectious Diseases
Background Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly.
Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang   +9 more
doaj   +1 more source

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

[Niemann-Pick disease (type C)].

Srpski arhiv za celokupno lekarstvo, 2006
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People.
D D, Milovanovitsh, A, Janeva, V, Jovanovitsh   +2 more
openaire   +1 more source

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source

Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

, 2015
Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC ...
Christopher L. Adamson, Dennis Velakoulis, Elizabeth A. Bowman, Jeffrey Chee, Larry A. Abel, Leong Looi, Mark Walterfang, Matthew D. Macfarlane, Michael C. Fahey, Patricia Desmond   +9 more
core   +1 more source

Niemann-Pick Disease Type C

, 2016
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown.
openaire   +2 more sources

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process. [PDF]

, 2019
To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-process regression (GPR) based machine learning (ML) (GPR-ML) through variation spatial profiling (VSP). VSP generates population-based matrices describing the spatial
Balch, William E, Farhat, Nicole Y, Hutt, Darren M, Loguercio, Salvatore, Porter, Forbes D, Scott, Samantha M, Subramanian, Kanagaraj, Wang, Chao, Zhao, Pei   +8 more
core   +1 more source

The experience of living with Niemann-Pick type C: a patient and caregiver perspective. [PDF]

Orphanet J Rare Dis, 2023
Golden E, van Gool R, Cay M, Goodlett B, Cao A, Al-Hertani W, Upadhyay J.   +6 more
europepmc   +1 more source