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The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase

Nature communications, 2021-04, Vol.12 (1), p.2073-16, Article 2073

2021

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Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes

Molecular therapy, 2021-05, Vol.29 (5), p.1903-1917

2021

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High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)

Molecular genetics and metabolism, 2016-01, Vol.117 (1), p.5-11

2016

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Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

The Journal of clinical investigation, 2008-08, Vol.118 (8), p.2858-2867

2008

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Die Schulung von Tutorinnen und Tutoren: Hochschuldidaktische Weiterbildung als Qualitatssteigerung fur die fachliche Lehre

Forum Exegese und Hochschuldidaktik: Verstehen von Anfang an (VvAa), 2020-06, Vol.5 (1), p.108

2020

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Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.352-367

2022

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Delivery of non-viral naked DNA vectors to liver in small weaned pigs by hydrodynamic retrograde intrabiliary injection

Molecular therapy. Methods & clinical development, 2022-03, Vol.24, p.268-279

2022

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Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1064-1076

2019

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Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

Molecular therapy. Nucleic acids, 2017-06, Vol.7 (C), p.339-349

2017

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Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2

Journal of neurochemistry, 2010-08, Vol.114 (3), p.853-863

2010

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Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase

Journal of neurochemistry, 2008-07, Vol.106 (2), p.672-681

2008

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Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.309-319

2016

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Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice

Molecular genetics and metabolism, 2022-05, Vol.136 (1), p.46-64

2022

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Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice

Molecular genetics and metabolism, 2018-01, Vol.123 (1), p.6-20

2018

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Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12

Human mutation, 2019-04, Vol.40 (4), p.483-494

2019

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Cover Image, Volume 40, Issue 4

Human mutation, 2019-04, Vol.40 (4), p.ii-ii

2019

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Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.2948-2963

2015

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Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.709-718

2018

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146. Optimizing Safety and Long-Term Efficacy of Liver Gene Therapy With Non-Integrating Naked-DNA Minicircle Vectors Expressing Their Transgene from a Natural Promoter

Molecular therapy, 2015-05, Vol.23, p.S59-S59

2015

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355. Minicircles Show Improved Hepatic Expression of Their Transgene from a Natural Endogenous Promoter and Are Lost Upon Partial Hepatectomy Due to the Episomal Nature of the Vector

Molecular therapy, 2016-05, Vol.24, p.S142-S142

2016

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Comprehensive characterization of ureagenesis in the spf ash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1064-1076

2019

Volltextzugriff (PDF)

The mechanism of BH4-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model

Human mutation, 2012-10, Vol.33 (10), p.1464-1473

2012

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The mechanism of BH sub(4)-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model

Human mutation, 2012-10, Vol.33 (10), p.1464-1473

2012

Volltextzugriff (PDF)

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Human mutation, 1999, Vol.13 (4), p.286-289

1999

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Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II

The Journal of biological chemistry, 1999-10, Vol.274 (44), p.31341-31348

1999

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The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase

Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

Die Schulung von Tutorinnen und Tutoren: Hochschuldidaktische Weiterbildung als Qualitatssteigerung fur die fachliche Lehre

Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice

Delivery of non-viral naked DNA vectors to liver in small weaned pigs by hydrodynamic retrograde intrabiliary injection

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice

Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice

Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice

Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12

Cover Image, Volume 40, Issue 4

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice

146. Optimizing Safety and Long-Term Efficacy of Liver Gene Therapy With Non-Integrating Naked-DNA Minicircle Vectors Expressing Their Transgene from a Natural Promoter

355. Minicircles Show Improved Hepatic Expression of Their Transgene from a Natural Endogenous Promoter and Are Lost Upon Partial Hepatectomy Due to the Episomal Nature of the Vector

Comprehensive characterization of ureagenesis in the spf ash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

The mechanism of BH4-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model

The mechanism of BH sub(4)-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II

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