Results 21 to 30 of about 2,942 (146)

Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice

open access: yesLipids 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]

open access: yesPLoS 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

Les manifestation oculaires des troubles primitifs du metabolisme des lipides: Étude clinique, génétique et anatomo-pathologique

open access: yesArquivos de Neuro-Psiquiatria, 1955
Les lipidoses constituent un groupe d'affections systématisées, caractérisées par une surcharge lipidique des tissus (en premier lieu du système réticulo-endothélial, accessoirement aussi de divers parenchymes).
D. Klein, A. Franceschetti, J. Babel
doaj   +1 more source

Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

open access: yesRevista 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

Leucodistrofia metacromática: registro de um caso

open access: yesArquivos de Neuro-Psiquiatria, 1980
É relatado um caso de leucodistrofia metacromática em paciente com três anos de idade. O exame histopatológico revelou inclusões metacromáticas dentro do citoplasma dos neurônios, o que permite comentar sobre a fisiopatogenia desta doença, grupando-a ...
Osvaldo J. M. Nascimento   +3 more
doaj   +1 more source

Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations

open access: yesMolecular 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

Lysosomal size matters

open access: yesTraffic, 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

Niemann-Pick disease type C

open access: yesOrphanet 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

Cherry Anthocyanins Regulate NAFLD by Promoting Autophagy Pathway

open access: yesOxidative Medicine and Cellular Longevity, Volume 2019, Issue 1, 2019., 2019
Nonalcoholic fatty liver disease (NAFLD) is a common chronic disease that threatens human health, and present therapies remain limited due to the lack of effective drugs. Lipid metabolic disturbance and oxidative stress have strong links to the development of NAFLD, while autophagy was generally accepted as a key regulatory mechanism on these steps ...
Qiang Chu   +7 more
wiley   +1 more source

Lipid Storage Myopathy in Behçet′s Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels

open access: yesCase Reports in Rheumatology, Volume 2012, Issue 1, 2012., 2012
Muscular involvement in Behçet’s disease is rare and there are only a few case reports in the literature. The causes of elevated muscle enzymes in a patient with Behcet’s disease are many, including myositis, drug‐induced myopathy, metabolic myopathy, and the disease itself.
Sedat Yilmaz   +9 more
wiley   +1 more source

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