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

