(Q42696785)

5 November 2017

title

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

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

5 November 2017

corrigendum / erratum

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author

Maja Tarailo-Graovac

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25

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29

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42

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Herma Renkema

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Xiao-Yan Wen

Xiao-Yan Wen

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Livia Garavelli

Livia Garavelli

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Andrea Rossi

Andrea Rossi

31

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Sheila Unger

Sheila Unger

43

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Andrea Superti-Furga

46

Andrea Superti-Furga

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5 November 2017

2

Luisa Bonafé

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Belinda Campos-Xavier

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Belinda Campos-Xavier

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5 November 2017

author name string

Clara D M van Karnebeek

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5 November 2017

Sara Balzano

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Beryl Royer-Bertrand

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Angel Ashikov

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Isabella Mammi

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Licia Turolla

10

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Catherine Breen

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Dian Donnai

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Valerie Cormier

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Delphine Heron

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Gen Nishimura

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Shinichi Uchikawa

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Antonio Rossi

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Thierry Hennet

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Koroboshka Brand-Arzamendi

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Jacob Rozmus

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Keith Harshman

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Brian J Stevenson

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Tammie Dewan

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Alissa Collingridge

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Jessie Halparin

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5 November 2017

Margot I Van Allen

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Udo F Engelke

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Leo A J Kluijtmans

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Ed van der Heeft

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Arjan de Brouwer

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Karin Huijben

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5 November 2017

Fokje Zijlstra

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Thorben Heisse

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Thomas Boltje

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Dirk J Lefeber

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Ron A Wevers

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5 November 2017

language of work or name

English

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publication date

23 May 2016

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5 November 2017

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volume

48

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issue

7

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5 November 2017

page(s)

777-784

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Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11

5 November 2017

cites work

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Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

21 January 2018

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Quantification of nucleotide-activated sialic acids by a combination of reduction and fluorescent labeling

21 January 2018

1 reference

Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.

21 January 2018

1 reference

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

21 January 2018

1 reference

Proteomics of early zebrafish embryos

21 January 2018

1 reference

Controlling morpholino experiments: don't stop making antisense.

21 January 2018

1 reference

The role and potential of sialic acid in human nutrition

21 January 2018

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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

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ST3GAL3 mutations impair the development of higher cognitive functions.

21 January 2018

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Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

21 January 2018

1 reference

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

21 January 2018

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Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport

21 January 2018

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A structural and functional model for human bone sialoprotein.

21 January 2018

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21 January 2018

12 December 2020

Sialic acid is an essential nutrient for brain development and cognition

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Molecular mechanism underlying sialic acid as an essential nutrient for brain development and cognition.

21 January 2018

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21 January 2018

Sialic acid utilization

1 reference

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation

21 January 2018

1 reference

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

21 January 2018

1 reference

Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells

21 January 2018

1 reference

Human uptake and incorporation of an immunogenic nonhuman dietary sialic acid

21 January 2018

1 reference

A red meat-derived glycan promotes inflammation and cancer progression

21 January 2018

1 reference

Human milk oligosaccharides: every baby needs a sugar mama

21 January 2018

1 reference

Milk sialyllactose influences colitis in mice through selective intestinal bacterial colonization.

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

The I-TASSER Suite: protein structure and function prediction.

21 January 2018

1 reference

Structural and mechanistic analysis of sialic acid synthase NeuB from Neisseria meningitidis in complex with Mn2+, phosphoenolpyruvate, and N-acetylmannosaminitol

21 January 2018

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Solution structure of the antifreeze-like domain of human sialic acid synthase

21 January 2018

1 reference

Nonsense-mediated decay of human HEXA mRNA.

21 January 2018

1 reference

HMDB 3.0--The Human Metabolome Database in 2013

21 January 2018

1 reference

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

21 January 2018

1 reference

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease

21 January 2018

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Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

21 January 2018

1 reference

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

21 January 2018

1 reference

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

21 January 2018

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Development of cartilage and bone.

21 January 2018

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12 December 2020

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

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12 December 2020

Probing the determinants of phosphorylated sugar-substrate binding for human sialic acid synthase

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12 December 2020

Uptake, metabolism and excretion of orally and intravenously administered, 14C- and 3H-labeled N-acetylneuraminic acid mixture in the mouse and rat.

1 reference

12 December 2020

Exome Sequencing and the Management of Neurometabolic Disorders.

1 reference

12 December 2020

Comparison of proteoglycans extracted from high and low weight-bearing human articular cartilage, with particular reference to sialic acid content

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12 December 2020

The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient

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12 December 2020

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7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3578

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Dimensions Publication ID

5 November 2017

1052576892

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