[HTML][HTML] Functional and biochemical consequences of disease variants in neurotransmitter transporters: a special emphasis on folding and trafficking deficits
Neurotransmitters, such as γ-aminobutyric acid, glutamate, acetyl choline, glycine and the
monoamines, facilitate the crosstalk within the central nervous system. The designated …
monoamines, facilitate the crosstalk within the central nervous system. The designated …
A transporter's doom or destiny: SLC6A1 in health and disease, novel molecular targets and emerging therapeutic prospects
N Shah, AS Kasture, FP Fischer, HH Sitte… - Frontiers in Molecular …, 2024 - frontiersin.org
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 …
The creatine transporter unfolded: a knotty premise in the cerebral creatine deficiency syndrome
CV Farr, A El-Kasaby, M Freissmuth… - Frontiers in Synaptic …, 2020 - frontiersin.org
Creatine provides cells with high-energy phosphates for the rapid reconstitution of
hydrolyzed adenosine triphosphate. The eponymous creatine transporter (CRT1/SLC6A8) …
hydrolyzed adenosine triphosphate. The eponymous creatine transporter (CRT1/SLC6A8) …
Synergistic control of transmitter turnover at glycinergic synapses by GlyT1, GlyT2, and ASC-1
V Eulenburg, S Hülsmann - International Journal of Molecular Sciences, 2022 - mdpi.com
In addition to being involved in protein biosynthesis and metabolism, the amino acid glycine
is the most important inhibitory neurotransmitter in caudal regions of the brain. These …
is the most important inhibitory neurotransmitter in caudal regions of the brain. These …
Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism
Point mutations in the gene encoding the human dopamine transporter (hDAT, SLC6A3)
cause a syndrome of infantile/juvenile dystonia and parkinsonism. To unravel the molecular …
cause a syndrome of infantile/juvenile dystonia and parkinsonism. To unravel the molecular …
Impaired glycine receptor trafficking in neurological diseases
N Schaefer, V Roemer, D Janzen… - Frontiers in molecular …, 2018 - frontiersin.org
Ionotropic glycine receptors (GlyRs) enable fast synaptic neurotransmission in the adult
spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride …
spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride …
A salt bridge linking the first intracellular loop with the C terminus facilitates the folding of the serotonin transporter
The folding trajectory of solute carrier 6 (SLC6) family members is of interest because point
mutations result in misfolding and thus cause clinically relevant phenotypes in people. Here …
mutations result in misfolding and thus cause clinically relevant phenotypes in people. Here …
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
M Alfadhel, M Nashabat, HA Qahtani, A Alfares… - Human genetics, 2016 - Springer
Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its
components encoded by GLDC, AMT and GCSH are the only known causes of glycine …
components encoded by GLDC, AMT and GCSH are the only known causes of glycine …
SLC6 transporter folding diseases and pharmacochaperoning
The human genome encodes 19 genes of the solute carrier 6 (SLC6) family; non-
synonymous changes in the coding sequence give rise to mutated transporters, which are …
synonymous changes in the coding sequence give rise to mutated transporters, which are …
How to rescue misfolded SERT, DAT and NET: targeting conformational intermediates with atypical inhibitors and partial releasers
Point mutations in the coding sequence for solute carrier 6 (SLC6) family members result in
clinically relevant disorders, which are often accounted for by a loss-of-function phenotype …
clinically relevant disorders, which are often accounted for by a loss-of-function phenotype …