A. Ashikov

发表

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

R. Pfundt, C. Biot, R. Rodenburg, 2018, Human molecular genetics.

Dynamic analysis of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs

Nicola Zamboni, G. Adema, D. Lefeber, 2020 .

Structure and function of nucleotide sugar transporters: Current progress

J. Tiralongo, C. Day, T. Haselhorst, 2014, Computational and structural biotechnology journal.

Characterisation of CMP‐Sialic Acid Transporter Substrate Recognition

J. Tiralongo, A. S. Stephens, T. Haselhorst, 2013, Chembiochem : a European journal of chemical biology.

A CMP-sialic acid transporter cloned from Arabidopsis thaliana.

D. Bosch, R. Gerardy-Schahn, D. Neumann, 2008, Carbohydrate research.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

H. Freeze, G. Matthijs, A. Ribes, 2021, American Journal of Human Genetics.

Functional UDP-xylose Transport across the Endoplasmic Reticulum/Golgi Membrane in a Chinese Hamster Ovary Cell Mutant Defective in UDP-xylose Synthase*

J. Esko, A. Yadav, R. Gerardy-Schahn, 2009, Journal of Biological Chemistry.

UDP-Xylose and UDP-N- Acetylglucosamine Transporter (SLC35B4) 123

H. Bakker, A. Ashikov, 2014 .

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

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

L. P. Van den Heuvel, M. Heiner-Fokkema, C. Thiel, 2022, Journal of inherited metabolic disease.

LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE.

R. Gerardy-Schahn, Falk F. R. Buettner, H. Bakker, 2013, Glycobiology.

In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases.

Maya K. Sethi, Falk F. R. Buettner, H. Bakker, 2013, Methods in molecular biology.

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

B. D. de Vries, H. Freeze, G. Mancini, 2019, Journal of inherited metabolic disease.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

L. Sturiale, D. Garozzo, R. Gerardy-Schahn, 2013, Journal of Medical Genetics.

Functional expression of the CMP-sialic acid transporter in Escherichia coli and its identification as a simple mobile carrier.

J. Tiralongo, R. Gerardy-Schahn, M. von Itzstein, 2005, Glycobiology.

A syndrome with congenital neutropenia and mutations in G6PC3.

Bodo Grimbacher, Gudrun Brandes, Alejandro A Schäffer, 2009, The New England journal of medicine.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

A 20 acts as master switch in TNFα blockade-driven IL-17 A expression

Raul Aguirre-Gamboa, H. Koenen, I. Joosten, 2017 .

Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.

D. Lefeber, H. Clausen, Zhang Yang, 2019, Biochimica et biophysica acta. General subjects.

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

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Cloning and functional characterization of human nucleotide-sugar transporters

A. Ashikov, 2006 .

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

Brian J. Stevenson, G. Superti-Furga, C. Ross, 2017, Nature genetics.

TNF‐&agr;–induced protein 3 (TNFAIP3)/A20 acts as a master switch in TNF‐&agr; blockade–driven IL‐17A expression

Raul Aguirre-Gamboa, H. Koenen, I. Joosten, 2017, The Journal of allergy and clinical immunology.

Molecular Cloning of a Xylosyltransferase That Transfers the Second Xylose to O-Glucosylated Epidermal Growth Factor Repeats of Notch*

R. Gerardy-Schahn, H. Takeuchi, R. Haltiwanger, 2011, The Journal of Biological Chemistry.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

H. van Bokhoven, N. Voermans, G. Tasca, 2019, Clinical chemistry.

Iconography : TNF-?–induced protein 3 (TNFAIP3) /A20 acts as a master switch in TNF-? blockade–driven IL-17A expression

Raul Aguirre-Gamboa, H. Koenen, I. Joosten, 2018 .

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

T. Brummelkamp, F. von Delft, W. Yue, 2015, Chemistry & biology.

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

G. van den Bogaart, S. Pajusalu, K. Õunap, 2020, Nature Communications.

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

T. Stevens, J. Veltman, R. Rodenburg, 2020, Hepatology.

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5)

G. van den Bogaart, S. Pajusalu, K. Õunap, 2020 .

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

A. Hoischen, M. Huynen, J. Veltman, 2016, American journal of human genetics.

C. elegans DPY-19 is a C-mannosyltransferase glycosylating thrombospondin repeats.

L. Lehle, Falk F. R. Buettner, H. Bakker, 2013, Molecular cell.

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

H. van Bokhoven, G. Adema, D. Lefeber, 2015, Human molecular genetics.

C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian gypsy population

I. Kremensky, A. Todorova, I. Tournev, 1999, Human mutation.

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

G. Adema, F. Rutjes, D. Lefeber, 2015, ACS chemical biology.

Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs

Nicola Zamboni, G. Adema, D. Lefeber, 2021, Glycobiology.

Endoplasmic reticulum retention of the large splice variant of the UDP-galactose transporter is caused by a dilysine motif.

R. Gerardy-Schahn, H. Bakker, A. Ashikov, 2005, Glycobiology.

Arabidopsis ROCK1 transports UDP-GlcNAc/UDP-GalNAc and regulates ER protein quality control and cytokinin activity

T. Schmülling, H. Weber, M. Strnad, 2014, Proceedings of the National Academy of Sciences.

Cryptococcus neoformans UGT1 encodes a UDP-Galactose/UDP-GalNAc transporter

T. Doering, Hong Liu, H. Bakker, 2017, Glycobiology.

Effects of a human recombinant alkaline phosphatase during impaired mitochondrial function in human renal proximal tubule epithelial cells

P. Pickkers, F. Russel, M. Adjobo-Hermans, 2017, European journal of pharmacology.

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

C. Thiel, D. Lefeber, M. Willemsen, 2019, JIMD reports.

The Human Solute Carrier Gene SLC35B4 Encodes a Bifunctional Nucleotide Sugar Transporter with Specificity for UDP-Xylose and UDP-N-Acetylglucosamine*

R. Gerardy-Schahn, H. Bakker, F. Routier, 2005, Journal of Biological Chemistry.

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

R. Wevers, P. Deen, A. Brouwer, 2013 .

C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian Gypsy population

I. Kremensky, A. Todorova, I. Tournev, 2000 .

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

R. Wevers, P. Deen, E. Morava, 2013, Neurology.