Results 41 to 50 of about 6,531 (222)

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

Frontiers 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, Grant M. Hatch, Grant M. Hatch   +2 more
doaj   +1 more source

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

OncoImmunology, 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, Huimin Yuan, Yi Lu, Henghui He, Qing Li, Senlin Li, Jian Yang, Mengheng Wang, Ruochen Xu, Qian Liu, Ming Xiang   +10 more
doaj   +1 more source

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Connectomic and Behavioural Alterations in Creatine Transporter Deficiency are Partially Normalized by Gene Therapy Montani C, Iovino L, Di Vetta F, Rene’ Pasquin Mariani J-C, De Guzman AE, Gini S, Galbusera A, D ...
Lillis KP.
europepmc   +3 more sources

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency. [PDF]

ACS Chem Biol
Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need.
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +2 more sources

A rare thyroid disorder mimicking mitochondrial disease [PDF]

Biomedicinska 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, Sladjana Todorović, Biljana Alimpić, Maja Čehić   +3 more
doaj   +1 more source

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

, 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, Aydin, Halil Ibrahim   +1 more
core   +1 more source

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. [PDF]

J Dev Behav Pediatr, 2016
Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic ...
Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N.   +10 more
europepmc   +6 more sources

Treatment experience in two adults with creatinfe transporter deficiency

Molecular 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, Sigrun Hope, Christian Vatshelle, Clara D.M. van Karnebeek   +3 more
doaj   +1 more source

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency. [PDF]

Mol Ther Methods Clin Dev
Creatine deficiency syndromes (CDS), caused by mutations in GATM (AGAT), GAMT, and SLC6A8, mainly affect the central nervous system (CNS). CDS show brain creatine (Cr) deficiency, intellectual disability with severe speech delay, behavioral troubles ...
Fernandes-Pires G, Azevedo MD, Lanzillo M, Roux-Petronelli C, Binz PA, Cudalbu C, Sandi C, Tenenbaum L, Braissant O.   +8 more
europepmc   +2 more sources

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

PLoS 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, Tori L Schaefer, Devon L Graham, Ton J Degrauw, Joseph F Clark, Michael T Williams, Charles V Vorhees   +6 more
doaj   +1 more source