UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 186

Sortiert nach

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

International journal of molecular sciences, 2020-01, Vol.21 (2), p.489

2020

Link zum Volltext

Verfügbarkeit prüfen

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

International journal of molecular sciences, 2019-08, Vol.20 (17), p.4164

2019

Link zum Volltext

Verfügbarkeit prüfen

Congenital disorders of glycosylation: narration of a story through its patents

Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.247-247, Article 247

2023

Link zum Volltext

Verfügbarkeit prüfen

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

International journal of molecular sciences, 2023-02, Vol.24 (5), p.4548

2023

Link zum Volltext

Verfügbarkeit prüfen

Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

International journal of molecular sciences, 2022-03, Vol.23 (7), p.3536

2022

Link zum Volltext

Verfügbarkeit prüfen

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

BMC bioinformatics, 2020-08, Vol.21 (Suppl 10), p.348-348, Article 348

2020

Link zum Volltext

Verfügbarkeit prüfen

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

International journal of molecular sciences, 2018-07, Vol.19 (8), p.2218

2018

Link zum Volltext

Verfügbarkeit prüfen

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1095

2023

Link zum Volltext

Verfügbarkeit prüfen

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Genes, 2024-02, Vol.15 (3), p.290

2024

Link zum Volltext

Verfügbarkeit prüfen

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Journal of Inherited Metabolic Disease, 2016-11, Vol.39 (6), p.765-780

2016

Link zum Volltext

Verfügbarkeit prüfen

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

International journal of molecular sciences, 2022-05, Vol.23 (9), p.5105

2022

Link zum Volltext

Verfügbarkeit prüfen

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-303, Article 303

2022

Link zum Volltext

Verfügbarkeit prüfen

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

Genes, 2021-04, Vol.12 (4), p.596

2021

Link zum Volltext

Verfügbarkeit prüfen

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

eLife, 2022-10, Vol.11

2022

Link zum Volltext

Verfügbarkeit prüfen

E-Learning for Rare Diseases: An Example Using Fabry Disease

International journal of molecular sciences, 2017-09, Vol.18 (10), p.2049

2017

Link zum Volltext

Verfügbarkeit prüfen

Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the Burkholderia cepacia Complex

Pharmaceuticals (Basel, Switzerland), 2022-02, Vol.15 (2), p.260

2022

Link zum Volltext

Verfügbarkeit prüfen

The current paradigm of cardiac troponin increase among athletes

Monaldi archives for chest disease, 2024-04

2024

Link zum Volltext

Verfügbarkeit prüfen

ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts

Biochimica et biophysica acta. General subjects, 2024-02, Vol.1868 (2), p.130526-130526, Article 130526

2024

Link zum Volltext

Verfügbarkeit prüfen

Mitral and Tricuspid Valve Disease in Athletes

Journal of clinical medicine, 2023-05, Vol.12 (10), p.3562

2023

Link zum Volltext

Verfügbarkeit prüfen

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation

Biochimie, 2024-07, Vol.222, p.123-131

2024

Link zum Volltext

Verfügbarkeit prüfen

Looking for protein stabilizing drugs with thermal shift assay

Drug testing and analysis, 2015-09, Vol.7 (9), p.831-834

2015

Link zum Volltext

Verfügbarkeit prüfen

Use of Inotropics by Peripheral Vascular Line in the First Hour of Treatment of Pediatric Septic Shock: Experience at an Emergency Department

Pediatric emergency care, 2022-01, Vol.38 (1), p.e371

2022

Link zum Volltext

Verfügbarkeit prüfen

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19

European journal of medical genetics, 2021-06, Vol.64 (6), p.104227-104227, Article 104227

2021

Link zum Volltext

Verfügbarkeit prüfen

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Clinical epigenetics, 2020-09, Vol.12 (1), p.139, Article 139

2020

Link zum Volltext

Verfügbarkeit prüfen

Physical activity and amyotrophic lateral sclerosis: A European population-based case-control study

Annals of neurology, 2014-05, Vol.75 (5), p.708-716

2014

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 186

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(157)
Mit Volltextzugriff
(164)

Publikationsform

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

Congenital disorders of glycosylation: narration of a story through its patents

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat

Immunological aspects of congenital disorders of glycosylation (CDG): a review

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

E-Learning for Rare Diseases: An Example Using Fabry Disease

Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the Burkholderia cepacia Complex

The current paradigm of cardiac troponin increase among athletes

ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts

Mitral and Tricuspid Valve Disease in Athletes

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation

Looking for protein stabilizing drugs with thermal shift assay

Use of Inotropics by Peripheral Vascular Line in the First Hour of Treatment of Pediatric Septic Shock: Experience at an Emergency Department

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Physical activity and amyotrophic lateral sclerosis: A European population-based case-control study

Suchergebnisse filtern