Molecular diversity and specializations among the cells of the adult mouse brain

A Saunders, EZ Macosko, A Wysoker, M Goldman… - Cell, 2018 - cell.com
The mammalian brain is composed of diverse, specialized cell populations. To
systematically ascertain and learn from these cellular specializations, we used Drop-seq to …

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) …

Creatine deficiency and heart failure

A Del Franco, G Ambrosio, L Baroncelli… - Heart Failure …, 2022 - Springer
Impaired cardiac energy metabolism has been proposed as a mechanism common to
different heart failure aetiologies. The energy-depletion hypothesis was pursued by several …

Transynaptic action of botulinum neurotoxin type A at central cholinergic boutons

M Caleo, M Spinelli, F Colosimo, I Matak… - Journal of …, 2018 - Soc Neuroscience
Botulinum neurotoxin Type A (BoNT/A) is an effective treatment for several movement
disorders, including spasticity and dystonia. BoNT/A acts by cleaving synaptosomal …

Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency

E Ghirardini, G Sagona, A Marquez-Galera… - Acta neuropathologica …, 2023 - Springer
Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein
responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD) …

[HTML][HTML] Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome

A El-Kasaby, A Kasture, F Koban, M Hotka… - …, 2019 - Elsevier
Diseases arising from misfolding of SLC6 transporters have been reported over recent
years, eg. folding-deficient mutants of the dopamine transporter and of the glycine …

Creatine, creatine kinase, and aging

N Sumien, RA Shetty, EB Gonzales - … and cell biology of ageing: part I …, 2018 - Springer
With an ever aging population, identifying interventions that can alleviate age-related
functional declines has become increasingly important. Dietary supplements have taken …

Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency

F Cacciante, M Gennaro, G Sagona, R Mazziotti… - Scientific Reports, 2020 - nature.com
Abstract Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting
with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure …

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

L Duran-Trio, G Fernandes-Pires, D Simicic… - Scientific Reports, 2021 - nature.com
Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP,
important in tissues with high energy demand such as muscle or brain. Creatine is taken …

A mouse model of creatine transporter deficiency reveals impaired motor function and muscle energy metabolism

M Stockebrand, A Sasani, D Das, S Hornig… - Frontiers in …, 2018 - frontiersin.org
Creatine serves as fast energy buffer in organs of high-energy demand such as brain and
skeletal muscle. l-Arginine: glycine amidinotransferase (AGAT) and guanidinoacetate N …