Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

Molecular Neurobiology

Volumn 50, Issue 1, 2014, Pages 159-167

  Chiricozzi, Elena ^a   Niemir, Natalia ^b   Aureli, Massimo ^a   Magini, Alessandro ^c   Loberto, Nicoletta ^a   Prinetti, Alessandro ^a   Bassi, Rosaria ^a   Polchi, Alice ^c   Emiliani, Carla ^c   Caillaud, Catherine ^b,d   Sonnino, Sandro ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY OF PERUGIA   (Italy)

^d université Paris Cité   (France)

Author keywords

Cultured fibroblasts; GM2 gangliosidosis; Pharmacological Chaperone; Pyrimethamine; Sandhoff disease; hexosaminidase

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; GANGLIOSIDE GM1; GANGLIOSIDE GM2; GANGLIOSIDE GM2 ACTIVATOR PROTEIN; PYRIMETHAMINE; CHAPERONE;

BLOOD BRAIN BARRIER; CASE REPORT; CHERRY RED SPOT; CRYSTAL STRUCTURE; DIMERIZATION; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; ENZYME ACTIVITY; ENZYME REPLACEMENT; ENZYME SYNTHESIS; EXON; FIBROBLAST; FIBROBLAST CULTURE; HUMAN; HYDROGEN BOND; INFANT; INTRON; ION EXCHANGE CHROMATOGRAPHY; LYSOSOME; MISSENSE MUTATION; MUSCLE HYPOTONIA; PHENOTYPE; PROMOTER REGION; PROTEIN FOLDING; PROTEIN STABILITY; REVIEW; SANDHOFF DISEASE; SEIZURE; TAY SACHS DISEASE; THERMOSTABILITY; DRUG EFFECTS; ENZYMOLOGY; METABOLISM;

FIBROBLASTS; HEXOSAMINIDASE B; HUMANS; MOLECULAR CHAPERONES; PYRIMETHAMINE; SANDHOFF DISEASE;

EID: 84911006918     PISSN: 08937648     EISSN: 15591182     Source Type: Journal    
DOI: 10.1007/s12035-013-8605-5     Document Type: Review

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