Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

European Journal of Human Genetics

Volumn 21, Issue 9, 2013, Pages 1020-1023

  Schlotawa, Lars ^a   Radhakrishnan, Karthikeyan ^a,b   Baumgartner, Matthias ^c   Schmid, Regula ^d   Schmidt, Bernhard ^a   Dierks, Thomas ^b   Gärtner, Jutta ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b BIELEFELD UNIVERSITY   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d State Hospital Winterthur   (Switzerland)

Author keywords

Formylglycine generating enzyme; genotype phenotype correlation; lysosomal storage disorders; Multiple Sulfatase Deficiency; sulfatase; SUMF1

Indexed keywords

ENZYME VARIANT; FORMYLGLYCINE; GENOMIC DNA; GLYCINE DERIVATIVE; GLYCOSAMINOGLYCAN; MESSENGER RNA; SULFATASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DRY SKIN; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME LOCALIZATION; EYE MOVEMENT; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYDROCEPHALUS; ICHTHYOSIS; INFANT; LEUKOENCEPHALOPATHY; METACHROMATIC LEUKODYSTROPHY; MOTOR PERFORMANCE; MULTIPLE SULFATASE DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STABILITY; QUADRIPLEGIA; SKILL; SPASTICITY; URINE LEVEL;

CELL LINE, TUMOR; CHILD, PRESCHOOL; ENZYME STABILITY; FATAL OUTCOME; FEMALE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MULTIPLE SULFATASE DEFICIENCY DISEASE; SULFATASES;

EID: 84882448815     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.291     Document Type: Article

References (13)

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