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Exome Pool-Seq in neurodevelopmental disorders

European journal of human genetics : EJHG, 2017-12, Vol.25 (12), p.1364-1376

2017

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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Human molecular genetics, 2012-10, Vol.21 (19), p.4151-4161

2012

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Protective Actions of Anserine Under Diabetic Conditions

International journal of molecular sciences, 2018-09, Vol.19 (9), p.2751

2018

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Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1191

2024

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Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

European journal of human genetics : EJHG, 2018-08, Vol.26 (8), p.1113-1120

2018

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Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

Glycoconjugate journal, 2013-01, Vol.30 (1), p.77-84

2013

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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1061-1071

2019

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A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice

International journal of molecular sciences, 2020-07, Vol.21 (14), p.4887

2020

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Allosteric inhibition of carnosinase (CN1) by inducing a conformational shift

Journal of enzyme inhibition and medicinal chemistry, 2017-01, Vol.32 (1), p.1102-1110

2017

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Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

Biochimica et biophysica acta, 2010-06, Vol.1802 (6), p.552-560

2010

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Carnosinase-1 Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet

Antioxidants, 2023-06, Vol.12 (6), p.1270

2023

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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Metabolites, 2023-11, Vol.13 (11), p.1141

2023

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Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

Molecular and Cellular Biology, 2006-08, Vol.26 (15), p.5615-5620

2006

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A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis

The Journal of biological chemistry, 2003-06, Vol.278 (25), p.22498-22505

2003

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A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.170-178

2003

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A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway

Nature medicine, 2018-01, Vol.24 (1), p.62-72

2018

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Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

The Journal of biological chemistry, 2021-01, Vol.296, p.100433-100433, Article 100433

2021

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Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Human molecular genetics, 2010-09, Vol.19 (18), p.3623-3633

2010

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Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

Nature medicine, 2012-01, Vol.18 (1), p.71-73

2012

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“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics

Proteomics. Clinical applications, 2024-03, Vol.18 (2), p.e2300040-n/a

2024

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Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

Molecular & cellular proteomics, 2016-04, Vol.15 (4), p.1435-1452

2016

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A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Human molecular genetics, 2010-04, Vol.19 (8), p.1413-1424

2010

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Expression of Hypoxia-Inducible Factor 1α (HIF-1α) and Genes of Related Pathways in Altered Gravity

International journal of molecular sciences, 2019-01, Vol.20 (2), p.436

2019

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Rapid Transient Transcriptional Adaptation to Hypergravity in Jurkat T Cells Revealed by Comparative Analysis of Microarray and RNA-Seq Data

International journal of molecular sciences, 2021-08, Vol.22 (16), p.8451

2021

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Metabolic Dynamics in Short- and Long-Term Microgravity in Human Primary Macrophages

International journal of molecular sciences, 2021-07, Vol.22 (13), p.6752

2021

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Exome Pool-Seq in neurodevelopmental disorders

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Protective Actions of Anserine Under Diabetic Conditions

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature

Therapies and therapeutic approaches in Congenital Disorders of Glycosylation

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice

Allosteric inhibition of carnosinase (CN1) by inducing a conformational shift

Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

Carnosinase-1 Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

A New Type of Congenital Disorders of Glycosylation (CDG-Ii) Provides New Insights into the Early Steps of Dolichol-linked Oligosaccharide Biosynthesis

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP

A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Expression of Hypoxia-Inducible Factor 1α (HIF-1α) and Genes of Related Pathways in Altered Gravity

Rapid Transient Transcriptional Adaptation to Hypergravity in Jurkat T Cells Revealed by Comparative Analysis of Microarray and RNA-Seq Data

Metabolic Dynamics in Short- and Long-Term Microgravity in Human Primary Macrophages

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