Aromatic amino acid decarboxylase deficiency: molecular and metabolic basis and therapeutic outlook
N Himmelreich, R Montioli, M Bertoldi… - Molecular genetics and …, 2019 - Elsevier
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal
recessive disorder characterized by sharply reduced synthesis of dopamine as well as other …
recessive disorder characterized by sharply reduced synthesis of dopamine as well as other …
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
Tetrahydrobiopterin (BH 4) deficiency is caused by genetic variants in the three genes
involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl …
involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl …
[PDF][PDF] The metabolic map into the pathomechanism and treatment of PGM1-CDG
S Radenkovic, MJ Bird, TL Emmerzaal… - The American Journal of …, 2019 - cell.com
Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-
P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and …
P and glucose-1-P. Mutations in PGM1 cause impairment in glycogen metabolism and …
[HTML][HTML] Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
N Himmelreich, M Bertoldi, M Alfadhel… - Molecular genetics and …, 2023 - Elsevier
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive
genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine …
genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine …
[HTML][HTML] Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
SF Garbade, N Shen, N Himmelreich, D Haas… - Genetics in …, 2019 - Elsevier
Purpose The nature of phenylalanine hydroxylase (PAH) variants determines residual
enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We …
enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We …
Missense variant c. 1460 T> C (p. L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West …
N Himmelreich, B Dimitrov, M Zielonka, A Hüllen… - Molecular Genetics and …, 2022 - Elsevier
Abstract ALG9-CDG is a CDG-I defect within the group of Congenital Disorders of
Glycosylation (CDG). We here describe the clinical symptoms of two new and unrelated …
Glycosylation (CDG). We here describe the clinical symptoms of two new and unrelated …
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
FJ van Spronsen, N Himmelreich… - Journal of medical …, 2018 - jmg.bmj.com
Background Autosomal recessive mutations in DNAJC12, encoding a cochaperone of
HSP70 with hitherto unknown function, were recently described to lead to …
HSP70 with hitherto unknown function, were recently described to lead to …
Early prediction of phenotypic severity in citrullinemia type 1
M Zielonka, S Kölker, F Gleich… - Annals of clinical …, 2019 - Wiley Online Library
Abstract Objective Citrullinemia type 1 (CTLN1) is an inherited metabolic disease affecting
the brain which is detectable by newborn screening. The clinical spectrum is highly variable …
the brain which is detectable by newborn screening. The clinical spectrum is highly variable …
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
N Himmelreich, N Shen, JG Okun, C Thiel… - Molecular genetics and …, 2018 - Elsevier
Residual phenylalanine hydroxylase (PAH) activity is the main determinant of the metabolic
phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving> 1000 …
phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving> 1000 …
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
N Himmelreich, F Kikul, L Zdrazilova, T Honzik… - Molecular Genetics and …, 2023 - Elsevier
PMM2-CDG is the most common defect among the congenital disorders of glycosylation. In
order to investigate the effect of hypoglycosylation on important cellular pathways, we …
order to investigate the effect of hypoglycosylation on important cellular pathways, we …