Results 91 to 100 of about 25,942 (185)

Preinatal Types of Niemann-Pick disease type C [PDF]

, 2015
How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.
ALAEI, Mohammad Reza
core   +2 more sources

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, Volume 36, Issue 3, May 2026.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +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

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed Allele

Journal of Inborn Errors of Metabolism and Screening, 2015
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C.
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD   +6 more
doaj   +1 more source

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2012
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T   +13 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

Altered vitamin E status in Niemann-Pick type C disease

Journal of Lipid Research, 2011
Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene, which regulates lipid transport through the endocytic pathway.
L. Ulatowski, R. Parker, C. Davidson, N. Yanjanin, T.J. Kelley, D. Corey, J. Atkinson, F. Porter, H. Arai, S.U. Walkley, D. Manor   +10 more
doaj   +1 more source

Miglustat in Niemann-Pick disease type C patients: a review

Orphanet Journal of Rare Diseases, 2018
Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
Mercè Pineda, Mark Walterfang, Marc C. Patterson   +2 more
doaj   +1 more source

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]

, 2017
Additional file 1.
Carmen Dominguez, Isabel De Castro-Orós, Jorge Javier Cebolla, María Jesús Pueyo, Miguel Mallén, Miguel Pocoví, null null, Pilar Irún, Pilar Mozas, Victor Rodriguez-Sureda   +9 more
core   +3 more sources

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive   +12 more
doaj   +1 more source