Results 71 to 80 of about 14,555 (206)
Promethean Parenting: the family of Niemann-Pick patients.
, 2010 The Niemann-Pick is an autosomal, recessive, rare and with a variable genomic imprinting disease. It involves three phenotypicalities (MNP-A, MNP-B, MNP-C) that differ by age of onset, symptoms and complexity of prognosis with a rather linear maintenance
ACQUARINI, ELENA
core
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
, 2020 OBJECTIVE To characterize subclinical abnormalities in asymptomatic heterozygote NPC1 mutation carriers as markers of neurodegeneration. METHODS Motor function, cognition, mood, sleep, and smell function were assessed in 20 first-degree ...
Clevert, Dirk A +12 more
core +1 more source
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
Frontiers in Immunology, 2019 The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira +25 more
doaj +1 more source
Niemann-Pick C1-Like 1 (NPC1L1) Inhibition and Cardiovascular Diseases [PDF]
, 2016 Circulating levels of cholesterol are derived from either endogenous production or intestinal absorption of dietary and biliary cholesterol. Niemann-Pick C1-Like 1 (NPC1L1) is a transmembrane protein that plays a key role in the intestinal absorption of ...
G. Norata +5 more
core +1 more source
Doença de Niemann Pick tipo B: relato de caso [PDF]
Introduction: Niemann-Pick Disease (NPD) is a rare genetic condition, an autosomal recessive disorder, that can be identified by the acid sphingomyelinase deficiency, which leads to the buildup of sphingomyelin on lysosomes.
Amoedo, Bianca Gomes Estevez
core
Niemann-Pick Diseases; largest Iranian cohort with genetic analysis
, 2019 Background: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the ...
Hashemian, Somayyeh +16 more
core +1 more source
, 2006 Exit of recycling cholesterol from late endosomes is defective in Niemann-Pick C1 (NPC1) and Niemann-Pick C2 (NPC2) diseases. The traffic route of the recycling proteoglycan glypican-1 (Gpc-1) may also involve late endosomes and could thus be affected in
Fransson, Lars-Åke +5 more
core +2 more sources
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 +8 more
doaj +1 more source
Eye Movements in Niemann Pick C Disease
, 2008 Many neurodegenerative diseases have characteristic eye movement abnormalities, including Niemann Pick C, Gaucher disease type 3, and PSP Since eye movements are easily quantifiable, could they serve as a measure of disease progression and help to ...
Edmond FitzGibbon
core
, 2019 Additional file 1: Table S1. Expected and actual peptide: lipid ratios. Figure S1. sHDLs rescue cholesterol storage in Niemann-Pick C patient fibroblasts. Figure S2. sHDLs induce the expression of cholesterol regulatory genes. Figure S3.
Elaine Liu (7848902) +16 more
core +1 more source