Cargando…

Effects of sphingolipids overload on red blood cell properties in Gaucher disease

Gaucher disease (GD) is a genetic disease with mutations in the GBA gene that encodes glucocerebrosidase causing complications such as anaemia and bone disease. GD is characterized by accumulation of the sphingolipids (SL) glucosylceramide (GL1), glucosylsphingosine (Lyso‐GL1), sphingosine (Sph) and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dupuis, Lucie, Chipeaux, Caroline, Bourdelier, Emmanuelle, Martino, Suella, Reihani, Nelly, Belmatoug, Nadia, Billette de Villemeur, Thierry, Hivert, Bénédicte, Moussa, Fathi, Le Van Kim, Caroline, de Person, Marine, Franco, Mélanie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520281/ https://www.ncbi.nlm.nih.gov/pubmed/32767726 http://dx.doi.org/10.1111/jcmm.15534

Ejemplares similares

Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells
por: Dupuis, Lucie, et al.
Publicado: (2022)

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease
por: Lefebvre, Thibaud, et al.
Publicado: (2018)

Type 3 Gaucher disease, diagnostic in adulthood
por: Detollenaere, Charles, et al.
Publicado: (2017)

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
por: Stirnemann, Jérôme, et al.
Publicado: (2017)

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
por: Bremova-Ertl, Tatiana, et al.
Publicado: (2018)

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
por: Nguyen, Yann, et al.
Publicado: (2020)

A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
por: Serratrice, Christine, et al.
Publicado: (2020)

Sphingolipids: the nexus between Gaucher disease and insulin resistance
por: Fuller, Maria
Publicado: (2010)

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients
por: Stirnemann, Jérôme, et al.
Publicado: (2012)

Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses
por: Maincent, Kim, et al.
Publicado: (2018)

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders
por: Lo, Aurélien, et al.
Publicado: (2017)

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
por: Rousseau, Marie-Christine, et al.
Publicado: (2015)

Bone events and evolution of biologic markers in Gaucher disease before and during treatment
por: Stirnemann, Jérôme, et al.
Publicado: (2010)

Hygiene promotion might be better than serological screening to deal with Cytomegalovirus infection during pregnancy: a methodological appraisal and decision analysis
por: Billette de Villemeur, Agathe, et al.
Publicado: (2020)

Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and Hypotheses
por: Dubot, Patricia, et al.
Publicado: (2020)

Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases
por: Ivanova, Margarita
Publicado: (2020)

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)
por: Zimran, Ari, et al.
Publicado: (2017)

Gaucher Disease in Bone: From Pathophysiology to Practice
por: Hughes, Derralynn, et al.
Publicado: (2019)

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism
por: Indellicato, Rossella, et al.
Publicado: (2019)

Targeting the Complement–Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy
por: Trivedi, Vyoma Snehal, et al.
Publicado: (2022)

Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development
por: Wątek, Marzena, et al.
Publicado: (2019)

Gaucher Disease and Gaucher Cells
por: Gözdaşoğlu, Sevgi
Publicado: (2015)

Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model
por: Vigan, Marie, et al.
Publicado: (2014)

Hepatocellular carcinoma in Gaucher disease: an international case series
por: Regenboog, Martine, et al.
Publicado: (2018)

Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases
por: Serratrice, Christine, et al.
Publicado: (2019)

Density Functional Theory based study on structural, vibrational and NMR properties of cis - trans fulleropyrrolidine mono-adducts
por: Bennia, Seif, et al.
Publicado: (2018)

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
por: Mehta, Atul, et al.
Publicado: (2019)

Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1
por: Stirnemann, Jérôme, et al.
Publicado: (2015)

Gaucher Cells or Pseudo-Gaucher Cells: That’s the Question
por: Gören Şahin, Deniz, et al.
Publicado: (2014)

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism
por: Furderer, Makaila L., et al.
Publicado: (2022)

Pulmonary involvement in Gaucher disease
por: de Farias, Lucas de Pádua Gomes, et al.
Publicado: (2017)

Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials
por: Lukina, Elena, et al.
Publicado: (2020)

The Equilibria of Sphingolipid-Cholesterol and Sphingolipid–Sphingolipid in Monolayers at the Air–Water Interface
por: Petelska, Aneta Dorota, et al.
Publicado: (2012)

Exodontia in patient with Gaucher's disease
por: Lisboa, Guacyra Machado, et al.
Publicado: (2011)

Gaucher's disease
por: Bohra, Vijay, et al.
Publicado: (2011)

Gaucher’s Disease
Publicado: (1916)

Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
por: Rosenbloom, Barry E., et al.
Publicado: (2022)

Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients
por: Rousseau, Marie-Christine, et al.
Publicado: (2018)

A Prospective Study of Bone Marrow Hematopoietic and Mesenchymal Stem Cells in Type 1 Gaucher Disease Patients
por: Lecourt, Séverine, et al.
Publicado: (2013)

Oxidative stress parameters of Gaucher disease type I patients
por: Mello, Alexandre Silva, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_v5tau1h6hn2eh4r1bs6p90jui9