Results 21 to 30 of about 2,988 (157)
ASN Neuro, 2022 Psychosine exerts most of its toxic effects by altering membrane dynamics with increased shedding of extracellular vesicles (EVs). In this study, we discovered that a fraction of psychosine produced in the brain of the Twitcher mouse, a model for Krabbe ...
Cory R. Reiter +14 more
doaj +1 more source
Lipids in Health and Disease, 2022 Background Recent findings show that extracellular vesicle constituents can exert short- and long-range biological effects on neighboring cells in the brain, opening an exciting avenue for investigation in the field of neurodegenerative diseases ...
Melissa R. Pergande +6 more
doaj +1 more source
Deficiency of a Niemann-Pick, type C1-related protein in toxoplasma is associated with multiple lipidoses and increased pathogenicity. [PDF]
PLoS Pathogens, 2011 Several proteins that play key roles in cholesterol synthesis, regulation, trafficking and signaling are united by sharing the phylogenetically conserved 'sterol-sensing domain' (SSD).
Bao Lige +7 more
doaj +1 more source
Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina
Revista Brasileira de Hematologia e Hemoterapia, 2008 A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira +2 more
doaj +1 more source
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations
Molecular Genetics &Genomic Medicine, Volume 8, Issue 8, August 2020., 2020 For the first time APOE‐Osaka/Kurashiki and APOE‐Chicago mutations reported in Chinese; Lipoprotein glomerulopathy (LPG) patients with urine protein remission had slower renal function decrease; LPG was associated with higher blood pressure; Serum apoE levels were higher in patients with low‐density lipoprotein receptor binding region mutations of APOE
Mingxin Yang +13 more
wiley +1 more source
Traffic, Volume 21, Issue 1, Page 60-75, January 2020., 2020 Over the last decade, we witnessed an unprecedented interest in lysosomes, most prominently as catabolic centers and as intracellular signaling platforms. Interestingly, lysosomal activity is strongly dependent on organelle numbers, size and position. The dynamic nature of lysosomes has been extensively documented but the importance of lysosomal size ...
Mariana E. G. de Araujo +3 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2010 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.
Vanier Marie T
doaj +1 more source
Lipidoses, Histiocytoses, and Hyperlipoproteinemias
, 2005 Donald Resnick, Mark J. Kransdorf
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2009 The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically,
Klintworth Gordon K
doaj +1 more source