Results 111 to 120 of about 48,564 (222)

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

Nature Communications, 2016
Acid sphingomyelinase (ASM) hydrolyzes sphingomyelin to ceramide and phosphocholine, essential components of myelin in neurons. Genetic alterations in ASM lead to ASM deficiency (ASMD) and have been linked to Niemann–Pick disease types A and B. Olipudase
Yanfeng Zhou, Matthew C. Metcalf, S. Garman, T. Edmunds, Huawei Qiu, R. Wei   +5 more
semanticscholar   +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

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +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

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

High Incidence of Unrecognized Visceral/Neurological Late-onset Niemann-Pick Disease, type C1 Predicted by Analysis of Massively Parallel Sequencing Data Sets

Genetics in Medicine, 2015
Purpose:Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and frequently delayed. Ascertainment is likely incomplete because of both these
C. Wassif, Joanna L. Cross, J. Iben, L. Sánchez-Pulido, A. Cougnoux, F. Platt, D. Ory, C. Ponting, J. Bailey-Wilson, L. Biesecker, F. Porter   +10 more
semanticscholar   +1 more source

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]

Journal of Lipid Research, 2019
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca, Stefania Vossio, Vincent Mercier, Dimitri Moreau, Shem Johnson, Cameron C. Scott, Jonathan Paz Montoya, Marc Moniatte, Jean Gruenberg   +8 more
doaj   +1 more source

Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target

Cell Death and Disease, 2016
Niemann–Pick disease, type C1 (NPC1) is a neurodegenerative, lysosomal storage disorder due to mutation of the NPC1 gene. The NPC1 phenotype is characterized by progressive neuronal dysfunction, including cerebellar ataxia and dementia.
A. Cougnoux, C. Cluzeau, S. Mitra, Rong Li, Ian M. Williams, Kathryn R. Burkert, Xiaoling Xu, C. Wassif, Wei Zheng, F. Porter   +9 more
semanticscholar   +1 more source

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]

, 2013
Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo, Beltrami, Carlo Alberto, Bembi, B, Bergamin, N, Cesselli, Daniela, Dardis, A, Domenis, Rossana, Rigo, S, Zampieri, S   +8 more
core   +2 more sources

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C [PDF]

, 2016
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are unknown.
Bembi, Bruno, Buratti, Emanuele, CANTERINI, Sonia, Dardis, Andrea, FIORENZA, Maria Teresa, Ghetti, Bernardino, Murrell, Jill, Newell, Kathy, Situani, Cristiana, Zampieri, Stefania   +9 more
core   +3 more sources