Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

Gene

Volumn 534, Issue 2, 2014, Pages 144-154

  Hossain, Mohammad Arif ^a   Otomo, Takanobu ^a,e   Saito, Seiji ^b   Ohno, Kazuki ^c,f   Sakuraba, Hitoshi ^d   Hamada, Yusuke ^a   Ozono, Keiichi ^a   Sakai, Norio ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HOKKAIDO INFORMATION UNIVERSITY   (Japan)

^c NPO for the Promotion of Research on Intellectual Property Tokyo   (Japan)

^d MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f ASTELLAS PHARMA INC   (Japan)

Author keywords

Galactocerebrosidase; Globoid cell leukodystrophy; Krabbe disease; Phenotype; Protein processing; Psychosine

Indexed keywords

GALACTOSYLCERAMIDASE; MUTANT PROTEIN; PROTEIN PRECURSOR; PSYCHOSINE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; DELETION MUTANT; ENZYME ACTIVITY; ENZYME POLYMORPHISM; ENZYME STRUCTURE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GLOBOID CELL LEUKODYSTROPHY; HUMAN; INFANT; JAPAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRECURSOR; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN PROCESSING; SCHOOL CHILD; STRUCTURE ANALYSIS; THERMOSTABILITY; TRANSIENT EXPRESSION;

6-HEXADECANOYLAMINO-4-METHYLUMBELLIFERYL-Β-D-GALACTOPYRANOSIDE; ASA; BMT; BONE MARROW TRANSPLANTATION; CENTRAL TRIOSEPHOSPHATE ISOMERASE; GALACTOCEREBROSIDASE; GALACTOCEREBROSIDE; GALC; GALCER; GLOBOID CELL LEUKODYSTROPHY; HM-GAL; KRABBE DISEASE; PHENOTYPE; PROTEIN PROCESSING; PSYCHOSINE; RMSD; ROOT-MEAN-SQUARE DISTANCE; SOLVENT-ACCESSIBLE SURFACE AREA; TIM;

ADOLESCENT; ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; GALACTOSYLCERAMIDASE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; LEUKODYSTROPHY, GLOBOID CELL; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 84890436149     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.003     Document Type: Article

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