[HTML][HTML] A three-ring circus: metabolism of the three proteogenic aromatic amino acids and their role in the health of plants and animals
A Parthasarathy, PJ Cross, RCJ Dobson… - Frontiers in molecular …, 2018 - frontiersin.org
Tyrosine, phenylalanine and tryptophan are the three aromatic amino acids (AAA) involved
in protein synthesis. These amino acids and their metabolism are linked to the synthesis of a …
in protein synthesis. These amino acids and their metabolism are linked to the synthesis of a …
Monoamine neurotransmitter disorders—clinical advances and future perspectives
The monoamine neurotransmitter disorders are important genetic syndromes that cause
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
[HTML][HTML] Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter
levels and severe motor dysfunction. Twenty-six patients without head control received …
levels and severe motor dysfunction. Twenty-six patients without head control received …
[HTML][HTML] Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
T Wassenberg, M Molero-Luis, K Jeltsch… - Orphanet journal of rare …, 2017 - Springer
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive
neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine …
neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine …
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
K Kojima, T Nakajima, N Taga, A Miyauchi, M Kato… - Brain, 2019 - academic.oup.com
In patients with aromatic l-amino acid decarboxylase (AADC) deficiency, a decrease in
catecholamines and serotonin levels in the brain leads to developmental delay and …
catecholamines and serotonin levels in the brain leads to developmental delay and …
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
PB Mills, RAH Surtees, MP Champion… - Human molecular …, 2005 - academic.oup.com
In the mouse, neurotransmitter metabolism can be regulated by modulation of the synthesis
of pyridoxal 5′-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results …
of pyridoxal 5′-phosphate and failure to maintain pyridoxal phosphate (PLP) levels results …
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
YH Chien, NC Lee, SH Tseng, CH Tai… - The Lancet Child & …, 2017 - thelancet.com
Background Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disease
that causes depletion of neurotransmitters and severe motor dysfunction in infants and …
that causes depletion of neurotransmitters and severe motor dysfunction in infants and …
Clinical features in aromatic L‐amino acid decarboxylase (AADC) deficiency: a systematic review
S Rizzi, C Spagnoli, D Frattini, F Pisani… - Behavioural …, 2022 - Wiley Online Library
Aromatic L‐amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal
recessive metabolic disorder caused by pathogenic homozygous or compound …
recessive metabolic disorder caused by pathogenic homozygous or compound …
[HTML][HTML] Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy
N Darin, E Reid, L Prunetti, L Samuelsson… - The American Journal of …, 2016 - cell.com
Pyridoxal 5′-phosphate (PLP), the active form of vitamin B 6, functions as a cofactor in
humans for more than 140 enzymes, many of which are involved in neurotransmitter …
humans for more than 140 enzymes, many of which are involved in neurotransmitter …
Brain dopamine–serotonin vesicular transport disease and its treatment
JJ Rilstone, RA Alkhater… - New England Journal of …, 2013 - Mass Medical Soc
We describe a disease encompassing infantile-onset movement disorder (including severe
parkinsonism and nonambulation), mood disturbance, autonomic instability, and …
parkinsonism and nonambulation), mood disturbance, autonomic instability, and …