N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

Movement Disorders

Volumn 32, Issue 10, 2017, Pages 1409-1422

  García Sanz, Patricia ^a,b   Orgaz, Lorena ^a,b   Bueno Gil, Guillermo ^a,b   Espadas, Isabel ^a,b   Rodríguez Traver, Eva ^a,b   Kulisevsky, Jaime ^b,c   Gutierrez, Antonia ^b,d   Dávila, José C ^b,d   González Polo, Rosa A ^b,e   Fuentes, José M ^b,e   Mir, Pablo ^b,f   Vicario, Carlos ^a,b   Moratalla, Rosario ^a,b  

^a INSTITUTO CAJAL   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d UNIVERSITY OF MÁLAGA   (Spain)

^e UNIVERSITY OF EXTREMADURA   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

autophagic vesicles; cell death; ER stress; mitochondria; multilamellar bodies

Indexed keywords

CHOLESTEROL; FILIPIN; GLUCOSYLCERAMIDASE; MESSENGER RNA; REACTIVE OXYGEN METABOLITE; ASPARAGINE; BECLIN 1; CALNEXIN; DDIT3 PROTEIN, HUMAN; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MTOR PROTEIN, HUMAN; SERINE; TARGET OF RAPAMYCIN KINASE;

APOPTOSIS; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; CELL DEATH; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; ENZYME ACTIVITY; FIBROBLAST; FLOW CYTOMETRY; GBA1 GENE; GENE; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; LAMELLAR BODY; LYSOSOME; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; OXIDATIVE STRESS; PARKINSON DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; WESTERN BLOTTING; WILD TYPE; BIOLOGICAL MODEL; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY; ULTRASTRUCTURE;

ASPARAGINE; AUTOPHAGY; BECLIN-1; CALNEXIN; CHOLESTEROL; ENDOPLASMIC RETICULUM; FEMALE; FIBROBLASTS; GLUCOSYLCERAMIDASE; GOLGI APPARATUS; HUMANS; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOMES; MALE; MODELS, BIOLOGICAL; MUTATION; OXIDATIVE STRESS; PARKINSON DISEASE; SERINE; TOR SERINE-THREONINE KINASES; TRANSCRIPTION FACTOR CHOP;

EID: 85026788540     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.27119     Document Type: Article

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