Results 51 to 60 of about 929 (148)

Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe's disease [PDF]

Journal of Neuroscience Research, 2016
Until recently, lipids were considered inert building blocks of cellular membranes. This changed three decades ago when lipids were found to regulate cell polarity and vesicle transport, and the “lipid raft” concept took shape. The lipid‐driven membrane anisotropy in form of “rafts” that associate with proteins led to the view that organized complexes ...
Stefka, Spassieva, Erhard, Bieberich
openaire   +2 more sources

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidaseResearch in context

EBioMedicine, 2018
Background: Gaucher Disease is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly affect GCase function by perturbing its protein homeostasis rather than its catalytic activity ...
Cathrine K. Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj H.T. Petersen, Bruno Bembi, Johannes F.M.G. Aerts, Andrea Dardis, Thomas Kirkegaard   +12 more
doaj   +1 more source

A study on enzyme activities of some sphingolipidoses

The Turkish Journal of Pediatrics, 1994
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda   +4 more
doaj  

Impact of an irreversible β-galactosylceramidase inhibitor on the lipid profile of zebrafish embryos

Computational and Structural Biotechnology Journal
Krabbe disease is a sphingolipidosis characterized by the genetic deficiency of the acid hydrolase β-galactosylceramidase (GALC). Most of the studies concerning the biological role of GALC performed on Krabbe patients and Galc-deficient twitcher mice (an
Jessica Guerra, Mirella Belleri, Giulia Paiardi, Chiara Tobia, Davide Capoferri, Marzia Corli, Elisa Scalvini, Marco Ghirimoldi, Marcello Manfredi, Rebecca C. Wade, Marco Presta, Luca Mignani   +11 more
doaj   +1 more source

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease.

PLoS ONE, 2019
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis.
Andrea N Crivaro, Juan M Mucci, Constanza M Bondar, Maximiliano E Ormazabal, Romina Ceci, Calogera Simonaro, Paula A Rozenfeld   +6 more
doaj   +1 more source

Spectrum of Paediatric Lysosomal Storage Disorders in Oman

Sultan Qaboos University Medical Journal, 2012
Objectives: The aim of this study was to look at the spectrum of paediatric lysosomal disorders in Oman. Lysosomal storage disorders (LSDs) are a heterogeneous group of inherited metabolic diseases.
Almundher A Al-Maawali, Surendra N Joshi, Roshan L Koul, Ali A Al-Maawali, Hilal S Al-Sedari, Bader M Al-Amri, Amna M Al-Futaisi   +6 more
doaj  

Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases.

PLoS ONE, 2019
The major cellular clearance pathway for organelle and unwanted proteins is the autophagy-lysosome pathway (ALP). Lysosomes not only house proteolytic enzymes, but also traffic organelles, sense nutrients, and repair mitochondria.
Margarita M Ivanova, Erk Changsila, Chidima Iaonou, Ozlem Goker-Alpan   +3 more
doaj   +1 more source

What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview

Advances in Rheumatology
Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation.
Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini   +2 more
doaj   +1 more source

Sphingolipidoses [PDF]

Journal of Clinical Pathology, 1974
openaire   +3 more sources

Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish. [PDF]

Int J Mol Sci, 2023
Mignani L, Guerra J, Corli M, Capoferri D, Presta M.   +4 more
europepmc   +1 more source