UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 96

Sortiert nach

Inborn errors of metabolite repair

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.14-24

2020

Link zum Volltext

Verfügbarkeit prüfen

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.759-768

2022

Link zum Volltext

Verfügbarkeit prüfen

Increased protein glycation in fructosamine 3-kinase-deficient mice

Biochemical journal, 2006-10, Vol.399 (2), p.257-264

2006

Link zum Volltext

Verfügbarkeit prüfen

Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Journal of inherited metabolic disease, 2021-09, Vol.44 (5), p.1215-1225

2021

Link zum Volltext

Verfügbarkeit prüfen

Metabolite proofreading, a neglected aspect of intermediary metabolism

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.427-434

2013

Link zum Volltext

Verfügbarkeit prüfen

Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis

Trends in biochemical sciences (Amsterdam. Regular ed.), 2020-03, Vol.45 (3), p.228-243

2020

Link zum Volltext

Verfügbarkeit prüfen

Many fructosamine 3‐kinase homologues in bacteria are ribulosamine/erythrulosamine 3‐kinases potentially involved in protein deglycation

The FEBS journal, 2007-09, Vol.274 (17), p.4360-4374

2007

Link zum Volltext

Verfügbarkeit prüfen

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

The Journal of biological chemistry, 2010-03, Vol.285 (13), p.9346-9356

2010

Link zum Volltext

Verfügbarkeit prüfen

SETD3 protein is the actin-specific histidine N -methyltransferase

eLife, 2018-12, Vol.7

2018

Link zum Volltext

Verfügbarkeit prüfen

Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β‐alanine transamination

The Journal of physiology, 2016-09, Vol.594 (17), p.4849-4863

2016

Link zum Volltext

Verfügbarkeit prüfen

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA

Journal of inherited metabolic disease, 2014, Vol.37 (1), p.13-19

2014

Link zum Volltext

Verfügbarkeit prüfen

A Gene Encoding a Putative FAD-Dependent L-2-Hydroxyglutarate Dehydrogenase Is Mutated in L-2-Hydroxyglutaric Aciduria

Proceedings of the National Academy of Sciences - PNAS, 2004-11, Vol.101 (48), p.16849-16854

2004

Link zum Volltext

Verfügbarkeit prüfen

Vertebrate Acyl CoA synthetase family member 4 (ACSF4‐U26) is a β‐alanine‐activating enzyme homologous to bacterial non‐ribosomal peptide synthetase

The FEBS journal, 2014-03, Vol.281 (6), p.1585-1597

2014

Link zum Volltext

Verfügbarkeit prüfen

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

PloS one, 2015-03, Vol.10 (3), p.e0119540

2015

Link zum Volltext

Verfügbarkeit prüfen

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

Italian journal of pediatrics, 2021-07, Vol.47 (1), p.1-149, Article 149

2021

Link zum Volltext

Verfügbarkeit prüfen

Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine

The Journal of biological chemistry, 2012-03, Vol.287 (10), p.7246-7255

2012

Link zum Volltext

Verfügbarkeit prüfen

Enzyme complexity in intermediary metabolism

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.721-727

2015

Link zum Volltext

Verfügbarkeit prüfen

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

Diagnostics (Basel), 2023-05, Vol.13 (10), p.1803

2023

Link zum Volltext

Verfügbarkeit prüfen

Endogenous sphingomyelin segregates into submicrometric domains in the living erythrocyte membrane[S]

Journal of lipid research, 2014-07, Vol.55 (7), p.1331-1342

2014

Link zum Volltext

Verfügbarkeit prüfen

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

Frontiers in pediatrics, 2022-11, Vol.10, p.1071464-1071464

2022

Link zum Volltext

Verfügbarkeit prüfen

A novel gluconeogenic route enables efficient use of erythritol in zoonotic Brucella

Frontiers in veterinary science, 2024, Vol.11, p.1328293-1328293

2024

Link zum Volltext

Verfügbarkeit prüfen

Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading

The Journal of biological chemistry, 2011-12, Vol.286 (50), p.42992-43003

2011

Link zum Volltext

Verfügbarkeit prüfen

Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young

The Journal of biological chemistry, 2005-04, Vol.280 (14), p.14105-14113

2005

Link zum Volltext

Verfügbarkeit prüfen

The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100813-100813, Article 100813

2021

Link zum Volltext

Verfügbarkeit prüfen

Metabolite Proofreading in Carnosine and Homocarnosine Synthesis

The Journal of biological chemistry, 2014-07, Vol.289 (28), p.19726-19736

2014

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 96

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(93)
Mit Volltextzugriff
(92)

Publikationsform

Artikel
(94)
Dissertationen
(2)

Sprache

Englisch
(96)
Japanisch
(18)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Inborn errors of metabolite repair

Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5

Increased protein glycation in fructosamine 3-kinase-deficient mice

Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Metabolite proofreading, a neglected aspect of intermediary metabolism

Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis

Many fructosamine 3‐kinase homologues in bacteria are ribulosamine/erythrulosamine 3‐kinases potentially involved in protein deglycation

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

SETD3 protein is the actin-specific histidine N -methyltransferase

Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β‐alanine transamination

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA

A Gene Encoding a Putative FAD-Dependent L-2-Hydroxyglutarate Dehydrogenase Is Mutated in L-2-Hydroxyglutaric Aciduria

Vertebrate Acyl CoA synthetase family member 4 (ACSF4‐U26) is a β‐alanine‐activating enzyme homologous to bacterial non‐ribosomal peptide synthetase

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

Molecular Identification of Hydroxylysine Kinase and of Ammoniophospholyases Acting on 5-Phosphohydroxy-l-lysine and Phosphoethanolamine

Enzyme complexity in intermediary metabolism

Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors

Endogenous sphingomyelin segregates into submicrometric domains in the living erythrocyte membrane[S]

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

A novel gluconeogenic route enables efficient use of erythritol in zoonotic Brucella

Ethylmalonyl-CoA Decarboxylase, a New Enzyme Involved in Metabolite Proofreading

Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young

The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb

Metabolite Proofreading in Carnosine and Homocarnosine Synthesis

Suchergebnisse filtern