Dopamine transporter deficiency syndrome (DTDS): expanding the clinical phenotype and precision medicine approaches
Infantile parkinsonism-dystonia due to dopamine transporter deficiency syndrome (DTDS) is
an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in …
an ultrarare childhood movement disorder caused by biallelic loss-of-function mutations in …
Genomic investigations of unexplained acute hepatitis in children
Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis
in children have been reported worldwide, including 278 cases in the UK. Here we report an …
in children have been reported worldwide, including 278 cases in the UK. Here we report an …
A transporter's doom or destiny: SLC6A1 in health and disease, novel molecular targets and emerging therapeutic prospects
As the first member of the solute carrier 6 (SLC6) protein family, the γ-aminobutyric acid
(GABA) transporter 1 (GAT1, SLC6A1), plays a pivotal role in the uptake of GABA from the …
(GABA) transporter 1 (GAT1, SLC6A1), plays a pivotal role in the uptake of GABA from the …
On-demand cell-autonomous gene therapy for brain circuit disorders
Several neurodevelopmental and neuropsychiatric disorders are characterized by
intermittent episodes of pathological activity. Although genetic therapies offer the ability to …
intermittent episodes of pathological activity. Although genetic therapies offer the ability to …
Gene therapy for neurotransmitter‐related disorders
Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous
diseases with predominant neurological features, such as movement disorders, autonomic …
diseases with predominant neurological features, such as movement disorders, autonomic …
Virus-inspired nanosystems for drug delivery
With over millions of years of evolution, viruses can infect cells efficiently by utilizing their
unique structures. Similarly, the drug delivery process is designed to imitate the viral …
unique structures. Similarly, the drug delivery process is designed to imitate the viral …
Molecular and clinical repercussions of GABA transporter 1 variants gone amiss: links to epilepsy and developmental spectrum disorders
The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the
solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA …
solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA …
Engineered stem cells by emerging biomedical stratagems
Stem cell therapy holds immense potential as a viable treatment for a widespread range of
intractable disorders. As the safety of stem cell transplantation having been demonstrated in …
intractable disorders. As the safety of stem cell transplantation having been demonstrated in …
Mouse models for inherited monoamine neurotransmitter disorders
Several mouse models have been developed to study human defects of primary and
secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to …
secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to …
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
Neurodevelopment is a highly organized and complex process involving lasting and often
irreversible changes in the central nervous system. Inherited disorders of neurotransmission …
irreversible changes in the central nervous system. Inherited disorders of neurotransmission …