NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Nature Genetics

Volumn 48, Issue 7, 2016, Pages 777-784

  Van Karnebeek, Clara D M ^a,b   Bonafé, Luisa ^c   Wen, Xiao Yan ^d,e   Tarailo Graovac, Maja ^a   Balzano, Sara ^a,b   Royer Bertrand, Beryl ^f   Ashikov, Angel ^c,f   Garavelli, Livia ^g   Mammi, Isabella ^h   Turolla, Licia ⁱ   Breen, Catherine ^j   Donnai, Dian ^k   Cormier, Valerie ^k   Heron, Delphine ^l   Nishimura, Gen ^m   Uchikawa, Shinichi ⁿ   Campos Xavier, Belinda ^c   Rossi, Antonio ^o   Hennet, Thierry ^p   Brand Arzamendi, Koroboshka ^d,e   Rozmus, Jacob ^a   Harshman, Keith ^q   Stevenson, Brian J ^f   Girardi, Enrico ^r   Superti Furga, Giulio ^r,s   Dewan, Tammie ^a   Collingridge, Alissa ^a   Halparin, Jessie ^a   Ross, Colin J ^a,b   Van Allen, Margot I ^a   Rossi, Andrea ^t   Engelke, Udo F ^u   Kluijtmans, Leo A J ^u   Van Der Heeft, Ed ^u   Renkema, Herma ^u   De Brouwer, Arjan ^u   Huijben, Karin ^u   Zijlstra, Fokje ^u   Heisse, Thorben ^v   Boltje, Thomas ^v   Wasserman, Wyeth W ^a,b   Rivolta, Carlo ^f   Unger, Sheila ^c   Lefeber, Dirk J ^g,u   Wevers, Ron A ^u   Superti Furga, Andrea ^c   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY OF LAUSANNE   (Switzerland)

^g RADBOUD UNIVERSITY   (Netherlands)

^h S MARIA NUOVA HOSPITAL   (Italy)

ⁱ UO Ginecologia e Ostetricia   (Italy)

^j Local Health Authority ULSS 9   (Italy)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

ⁿ NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^o UNIVERSITY OF PAVIA   (Italy)

^p UNIVERSITY OF ZURICH   (Switzerland)

^q UNIVERSITY OF LAUSANNE   (Switzerland)

^r ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^s MEDICAL UNIVERSITY OF VIENNA   (Austria)

^t G GASLINI INSTITUTE   (Italy)

^u RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^v RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE; N ACETYL DEXTRO MANNOSE; N ACETYLNEURAMINIC ACID; SIALIC ACID; SIALOGLYCOPROTEIN; UNCLASSIFIED DRUG; LYASE; N-ACYLNEURAMINATE-9-PHOSPHATE SYNTHASE; SIALIC ACID DERIVATIVE;

ADOLESCENT; ADULT; ANTHROPOMETRY; ARTICLE; BASAL GANGLION; BONE DEVELOPMENT; BONE DYSPLASIA; BONE GROWTH; BRAIN ATROPHY; BRAIN DEVELOPMENT; CAPILLARY ELECTROPHORESIS; CARBOHYDRATE SYNTHESIS; CEREBROSPINAL FLUID; CHILD; CHROMOSOME 9; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMBRYO; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; FACIES; FEMALE; FIBROBLAST; GENE SILENCING; HAPLOTYPE; HUMAN; HYDROCEPHALUS; INFANT; MALE; MICROGYRIA; MISSENSE MUTATION; MUSCLE HYPOTONIA; NONHUMAN; PATHOGENICITY; PHENOTYPE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SHORT STATURE; SIALYLATION; SOCIAL COMPETENCE; WHITE MATTER; YOUNG ADULT; ZEBRA FISH; ANIMAL; BRAIN; EMBRYOLOGY; GENETICS; INBORN ERROR OF METABOLISM; METABOLISM; MUTATION; NEWBORN; NONMAMMALIAN EMBRYO; ONSET AGE; PATHOLOGY;

ADULT; AGE OF ONSET; ANIMALS; BONE DISEASES, DEVELOPMENTAL; BRAIN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EMBRYO, NONMAMMALIAN; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUTATION; OXO-ACID-LYASES; SIALIC ACIDS; ZEBRAFISH;

EID: 84969834515     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3578     Document Type: Article

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