Related references
Note: Only part of the references are listed.Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
Chun-Hwei Tai et al.
MOLECULAR THERAPY (2022)
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Giovanni Bisello et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2022)
Aromatic L-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies
Giada Rossignoli et al.
BRAIN (2021)
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry
Riccardo Montioli et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model
Kate Williams et al.
CURRENT MEDICAL RESEARCH AND OPINION (2021)
Compound heterozygosis in MDC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric MDC proteins
Carmen Longo et al.
MOLECULAR GENETICS AND METABOLISM (2021)
Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Toni S. Pearson et al.
NATURE COMMUNICATIONS (2021)
New variants of AADC deficiency expand the knowledge of enzymatic phenotypes
Riccardo Montioli et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2020)
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
Karin Kojima et al.
BRAIN (2019)
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Nastassja Himmelreich et al.
MOLECULAR GENETICS AND METABOLISM (2019)
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
Riccardo Montioli et al.
MOLECULAR GENETICS AND METABOLISM (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Sarah E. Brnich et al.
GENOME MEDICINE (2019)
Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Renata C. Gallagher et al.
GENETICS IN MEDICINE (2018)
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations
Riccardo Montioli et al.
IUBMB LIFE (2018)
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N. Abou Tayoun et al.
HUMAN MUTATION (2018)
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Tessa Wassenberg et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations
Kirk L. Pappan et al.
PEDIATRIC NEUROLOGY (2017)
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
Yin-Hsiu Chien et al.
LANCET CHILD & ADOLESCENT HEALTH (2017)
SIFT missense predictions for genomes
Robert Vaser et al.
NATURE PROTOCOLS (2016)
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency
Riccardo Montioli et al.
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Paldeep S. Atwal et al.
MOLECULAR GENETICS AND METABOLISM (2015)
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications
Riccardo Montioli et al.
HUMAN MOLECULAR GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine
Riccardo Montioli et al.
HUMAN MOLECULAR GENETICS (2013)
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency
Wuh-Liang Hwu et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency
Riccardo Montioli et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases
Giorgio Giardina et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
L. Brun et al.
NEUROLOGY (2010)
FactoMineR: An R package for multivariate analysis
Sebastien Le et al.
JOURNAL OF STATISTICAL SOFTWARE (2008)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Mutation of tyrosine 332 to phenylalanine converts dopa decarboxylase into a decarboxylation-dependent oxidative deaminase
M Bertoldi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Structural insight into Parkinson's disease treatment from drug-inhibited DOPA decarboxylase
P Burkhard et al.
NATURE STRUCTURAL BIOLOGY (2001)
Share Paper
