Results 1 to 10 of about 3,736 (191)

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   +2 more sources

Morphological Characteristics of Peripheral Blood Cells in Patients with Neutral Lipid Storage Disease with Myopathy and Literature Review [PDF]

open access: yesZhongguo quanke yixue, 2022
Background Neutral lipid storage disease with myopathy (NLSDM) has obscure onset and nonspecific clinical symptoms. Due to different clinical manifestations, the patients with NLSDM may be seen in neurology, cardiovascular disease and other departments ...
Ying XING, Chengwei PU, Ke SHANG, Chenxue QU
doaj   +1 more source

Direct activation of the fibroblast growth factor-21 pathway in overweight and obese cats

open access: yesFrontiers in Veterinary Science, 2023
IntroductionFeline obesity is common, afflicting ~25–40% of domestic cats. Obese cats are predisposed to many metabolic dyscrasias, such as insulin resistance, altered blood lipids, and feline hepatic lipidosis.
Emily J. Brinker   +14 more
doaj   +1 more source

Iron Overload Protects from Obesity by Ferroptosis

open access: yesFoods, 2021
Dysregulation in iron metabolism is associated with obesity, type 2 diabetes, and other metabolic diseases, whereas the underlying mechanisms of imbalanced glycolipid metabolism are still obscure.
Wan Ma   +3 more
doaj   +1 more source

The Pathogenic Sphingolipid Psychosine is Secreted in Extracellular Vesicles in the Brain of a Mouse Model of Krabbe Disease

open access: yesASN 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

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

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

Ataxia in children: early recognition and clinical evaluation [PDF]

open access: yes, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele   +6 more
core   +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

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