Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning

Proceedings of the National Academy of Sciences of the United States of America

Volumn 116, Issue 11, 2019, Pages 5086-5095

  Romero, Raquel ^a   Ramanathan, Arvind ^b   Yuen, Tony ^c   Bhowmik, Debsindhu ^b   Mathew, Mehr ^c   Munshi, Lubna Bashir ^c   Javaid, Seher ^c   Bloch, Madison ^c   Lizneva, Daria ^c   Rahimova, Alina ^c   Khan, Ayesha ^c   Taneja, Charit ^c   Kim, Se Min ^c   Sun, Li ^c   New, Maria I ^c   Haider, Shozeb ^a   Zaidi, Mone ^c  

^a UNIVERSITY OF LONDON   (United Kingdom)

^b OAK RIDGE NATIONAL LABORATORY   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Gene mutations; Lysosomal storage disease; Multiscale simulations; Rare disease

Indexed keywords

ASPARAGINE; GLUCOSYLCERAMIDASE; LEUCINE; LIPID; PROLINE; PROTEIN SAPC; SERINE; SPHINGOLIPID ACTIVATOR PROTEIN; UNCLASSIFIED DRUG; MUTANT PROTEIN;

ARTICLE; BINDING SITE; CONFORMATIONAL TRANSITION; DEEP LEARNING; ENZYME ACTIVATION; ENZYME STABILITY; ENZYME SUBSTRATE COMPLEX; GAUCHER DISEASE; HUMAN; KNOWLEDGE BASE; MOLECULAR DOCKING; MOLECULAR DYNAMICS; MOLECULAR MECHANICS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; CHEMISTRY; ENZYME ACTIVE SITE; ENZYMOLOGY; HYDROGEN BOND; METABOLISM; PATHOPHYSIOLOGY; PROTEIN ANALYSIS; PROTEIN SECONDARY STRUCTURE;

CATALYTIC DOMAIN; DEEP LEARNING; ENZYME ACTIVATION; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; HYDROGEN BONDING; MOLECULAR DYNAMICS SIMULATION; MUTANT PROTEINS; PROTEIN INTERACTION MAPS; PROTEIN STRUCTURE, SECONDARY; SAPOSINS;

EID: 85062835032     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1818411116     Document Type: Article

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