Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

Journal of Biochemistry

Volumn 153, Issue 1, 2013, Pages 111-119

  Yamada, Kenichiro ^a   Takado, Yuhei ^b   Kato, Yusuke S ^c   Yamada, Yasukazu ^a   Ishiguro, Hideaki ^b   Wakamatsu, Nobuaki ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b AKITA RED CROSS HOSPITAL   (Japan)

^c TOKUSHIMA BUNRI UNIVERSITY   (Japan)

Author keywords

hexosaminidase; adult form of Sandhoff disease; dimer formation; missense mutation; motor neuron disease phenotype

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE BETA CHAIN; MUTANT PROTEIN;

ADULT; ARTICLE; BETA SHEET; CASE REPORT; CELL STRAIN HEK293; CONTROLLED STUDY; DIMERIZATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME CONFORMATION; GEL FILTRATION; HUMAN; IMMUNOPRECIPITATION; JAPANESE; MALE; MISSENSE MUTATION; MOTOR NEURON DISEASE; MUTATIONAL ANALYSIS; PHENOTYPE; PROTEIN DOMAIN; SANDHOFF DISEASE; SPLICING DEFECT; STRUCTURE ANALYSIS; WILD TYPE;

AMINO ACID SUBSTITUTION; BETA-HEXOSAMINIDASE BETA CHAIN; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOTOR NEURON DISEASE; MUTANT PROTEINS; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, SECONDARY; RECOMBINANT PROTEINS; SANDHOFF DISEASE;

EID: 84871638066     PISSN: 0021924X     EISSN: 17562651     Source Type: Journal    
DOI: 10.1093/jb/mvs131     Document Type: Article

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