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BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, ISSN 0925-4439, 12/2018, Volume 12, pp. 3697 - 3713
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 02/2017, Volume 12
Background: Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal beta-glucocerebrosidase (GCase). In GD, partial or complete... 
MEDICINE, RESEARCH & EXPERIMENTAL | Oxidative stress | Efferocytosis | Coenzyme Q | Inflammasome | MITOPHAGY | AUTOPHAGY | LYSOSOMAL STORAGE DISORDERS | DEFICIENCY | Mitochondria | Gaucher disease | MOUSE MODEL | GENETICS & HEREDITY | TRIGGERS MITOCHONDRIA DEGRADATION | MICE | DYSFUNCTION | ACCUMULATION | PARKINSONS-DISEASE
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 02/2017, Volume 12, Issue 1, pp. 1 - 15
Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal [beta]-glucocerebrosidase (GCase). In GD, partial or complete loss of... 
Efferocytosis | Oxidative stress | Mitochondria | Inflammasome | Gaucher disease | Coenzyme Q10 | Care and treatment | Coenzymes | Physiological aspects | Genetic aspects | Research | Diagnosis | Macrophages | Risk factors | Gaucher's disease
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 12/2018, Volume 1864, Issue 12, p. 3697
Familial Hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels and... 
Antigens | Enzymes | Hypercholesterolemia | Low density lipoproteins | Atherosclerosis | Genetic aspects | Genetic engineering | Mitochondrial DNA | Cholesterol
Journal Article
Journal Article
Journal Article
Diseases (Basel, Switzerland), ISSN 2079-9721, 10/2016, Volume 4, Issue 4, p. 31
Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of... 
Metabolism | Medical disorders | Mitochondria | lysosomal storage disorders | mitochondrial dysfunction | Gaucher disease
Journal Article
Diseases (Basel, Switzerland), ISSN 2079-9721, 12/2016, Volume 5, Issue 1, p. 1
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics,... 
Charcot-Marie-Tooth disease | Osmosis | Mitochondrial DNA | mitophagy | mitochondrial fusion | mitochondrial disease | mitocondrial fission | mitochondrial dynamics
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 12/2018, Volume 1864, Issue 12, pp. 3697 - 3713
Familial Hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels and... 
Mitochondria dysfunction | LDL-R | Inflammasome | Coenzyme Q10 deficiency | Mitophagy | Familial Hypercholesterolemia | Cholesterol | deficiency | Coenzyme Q
Journal Article
International Journal of Molecular Sciences, ISSN 1422-0067, 10/2019, Volume 20, Issue 20, p. 5195
Atherosclerosis is the most common cause of cardiac deaths worldwide. Classically, atherosclerosis has been explained as a simple arterial lipid deposition... 
Journal Article
by Sánchez Sánchez, César and Losada, A and Llorente Hernández, C and Cuéter Mendoza, J.C and Esplugues Cortell, J.R and Ferri Sastre, E and Matínez Pedanyé, D and Quiles Antón, A and González Pérez, J.M and González-Ripoll Garzón, M and Álvarez Córdoba, A and Delgado Cardoso, M and Gómez Málaga, C.M and Hernández Carballo, C and López Valero, G.N and Pérez Civantos, J and Santos Ruiz, I and Achaval Rodríguez, V and Arigón Gaudiano, P and Barco Rubio, J and Conejero Romagosa, J and Edo Valdovi, D and Electrico Persico, A and Elnayef Elnayef, H and García Henares, A.M and Giménez Subiñá, E and Gimeno Pita, P and Goyanes Sotelo, C.S and Guimaraes Mazpule, I and Laporte Ocaña, R and León Marín, I and Llobera Bauzá, M.J and López Lorite, A.M and Marco García, M and Martín, P.K and Martín Lázaro, A and Martínez Ortiz, J.L and Martorell Aymeric, J and Moriyón Gotera, J and Olmo González, M and Ortolá Castells, M.E and Picorell Novo, M.E and Reta Atozqui, G and Rodrigo González De Liria, A and Rodriguez Alsina, S and Roldán Ros, A.M and Rueda Muñoz, A and Sánchez Rosell, M and Sancho Suárez, M and Torres Sancho, J and Vallbona Zubizarreta, J and Vázquez Rodríguez Alessi, P and Verges Brotons, J and Gómez De La Calzada Gutierrez, F and Ibrahim Al- Oman, O and Pires Sánchez, C and Reyes Moreno, A and Rodríguez Barrero, S and Fernández Revuelta, S and Guerrero Vázquez, J and Díaz De Entresotos Villazan, L and Fernández Fernández, B and García Calatayud, S and García López, N and Madrigal Díez, C and Ortiz Revuelta, V and Pérez Guerrero, A and Uriarte Higuera, A and Estero Castaño, F.J and Larragay Arredondo, M and Tordera Gómez, P.L and Álvarez Gil, D and De La Torre Cecilia, C and Gómez Chaparro Moreno, J.L and Muriel Zafra, M.I and Díaz Castany, C and Díaz Jiménez, C and Talavera Rodríguez, R and Alberdi Alberdi, A and Barral Barral, J and Belloso Balzategui, J and Bervel Clemente, S and Duque Alcuña, G and Muriel Infante, J and Tello Ochoa, J.M and Díaz Vico, M.P and Navarrete Ruiz, I and Rus Tellez, A.M and Torres Conde, J and Torres Torres, A.R and Carcía Cabanas, M.C and López Coronas, D and Maíz Cal, C and Seijo Garea, E.M and Bernad Usoz, J.V and Gutiérrez Rodríguez, J and Alonso García, L.A and Alonso Ortiz, T and Satray San-Martín, A and De La Vega Jiménez, F and ...
Revista Espanola de Pediatria, ISSN 0034-947X, 05/2012, Volume 68, Issue 3, pp. 206 - 212
Journal Article