A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Human Molecular Genetics

Volumn 23, Issue 2, 2014, Pages 418-433

  Boccuto, Luigi ^a   Aoki, Kazuhiro ^b   Flanagan Steet, Heather ^b   Chen, Chin Fu ^a   Fan, Xiang ^b   Bartel, Frank ^a   Petukh, Marharyta ^c   Pittman, Ayla ^a   Saul, Robert ^a   Chaubey, Alka ^a   Alexov, Emil ^c   Tiemeyer, Michael ^b   Steet, Richard ^b   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITY OF GEORGIA   (United States)

^c CLEMSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GANGLIOSIDE GM3; GLYCOLIPID; GLYCOPROTEIN; GLYCOSYLTRANSFERASE; LACTOSYLCERAMIDE; MESSENGER RNA; SIALIC ACID; SIALYLTRANSFERASE;

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2P; CLINICAL ARTICLE; COHORT ANALYSIS; COPY NUMBER VARIATION; EMBRYO; EPILEPSY; EXOME; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; HYDROGEN BOND; MALE; MICROARRAY ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHAKOMATOSIS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SALT AND PEPPER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; APOPTOSIS; CHROMOSOMES, HUMAN, PAIR 2; CONSERVED SEQUENCE; EMBRYO, NONMAMMALIAN; EXOME; FEMALE; G(M3) GANGLIOSIDE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE KNOCKDOWN TECHNIQUES; GENETIC VARIATION; GLYCOLIPIDS; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NEUROCUTANEOUS SYNDROMES; NEURONS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIALYLTRANSFERASES; ZEBRAFISH;

EID: 84892639259     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt434     Document Type: Article

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