Results 51 to 60 of about 612,233 (251)

Reduction in cardiolipin reduces expression of creatine transporter-1 and creatine transport in growing hCMEC/D3 human brain microvessel endothelial cells

open access: yesFrontiers in Drug Delivery, 2023
The phospholipid cardiolipin (CL) regulates mitochondrial energy production. Endothelial cells of the blood-brain barrier (BBB) play a vital role in uptake of metabolites into the brain and are enriched in mitochondria.
Donald W. Miller   +2 more
doaj   +1 more source

Creatine protects against excitoxicity in an in vitro model of neurodegeneration. [PDF]

open access: yes, 2012
Creatine has been shown to be neuroprotective in aging, neurodegenerative conditions and brain injury. As a common molecular background, oxidative stress and disturbed cellular energy homeostasis are key aspects in these conditions. Moreover, in a recent
Geiger Johanna   +17 more
core   +1 more source

CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport

open access: yesOncoImmunology, 2023
Pancreatic cancer (PC) is featured with low survival rate and poor outcomes. Herein, we found that the expression of caspase-recruitment domain-containing protein 9 (CARD9), predominantly expressed in innate immune cells, was positively related to the ...
Cheng Tian   +10 more
doaj   +1 more source

Creatine salts provide neuroprotection even after partial impairment of the creatine transporter [PDF]

open access: yes, 2017
Creatine, a compound that is critical for energy metabolism of nervous cells, crosses the blood-brain barrier (BBB) and the neuronal plasma membrane with difficulty, and only using its specific transporter.
Salis, A.   +11 more
core   +1 more source

A rare thyroid disorder mimicking mitochondrial disease [PDF]

open access: yesBiomedicinska istraživanja, 2021
Introduction. Patients affected with Allan-Herndon-Dudley syndrome (AHDS) have a deficiency of monocarboxylate transporter 8 (MCT8), a protein primarily responsible for the transport of triiodothyronine (T3) into the brain.
Adrijan Sarajlija   +3 more
doaj   +1 more source

Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder [PDF]

open access: yes, 2018
Background Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism. Case characteristics Two brothers with autism spectrum disorder were diagnosed with CTD at ...
Halil Ibrahim Aydin   +1 more
core   +1 more source

Treatment experience in two adults with creatinfe transporter deficiency

open access: yesMolecular Genetics and Metabolism Reports, 2021
Background: Creatine transporter deficiency (CTD) is an X-linked form of intellectual disability (ID) caused by SCL6A8 mutations. Limited information exists on the adult course of CTD, and there are no treatment studies in adults.
Jack Schjelderup   +3 more
doaj   +1 more source

Upregulation of the Creatine Transporter Slc6A8 by Klotho

open access: yesKidney & Blood Pressure Research, 2014
Background/Aims: The transmembrane Klotho protein contributes to inhibition of 1,25(OH)2D3 formation. The extracellular domain of Klotho protein could function as an enzyme with e.g. β-glucuronidase activity, be cleaved off and be released into blood and
Ahmad Almilaji   +8 more
doaj   +1 more source

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency. [PDF]

open access: yesPLoS ONE, 2011
Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral abnormalities.
Matthew R Skelton   +6 more
doaj   +1 more source

The creatine transporter mediates the uptake of creatine by brain tissue, but not the uptake of two creatine-derived compounds.

open access: yes, 2006
Hereditary creatine transporter deficiency causes brain damage, despite the brain having the enzymes to synthesize creatine. Such damage occurring despite an endogenous synthesis is not easily explained.
Lunardi G   +10 more
core   +2 more sources

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