Results 31 to 40 of about 612,233 (251)

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'Epifanio B, Ghirardini E, Cornuti S, Dadà
Lillis KP.
europepmc   +4 more sources

Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy. [PDF]

Brain
Creatine transporter deficiency (CTD) is an X-linked disorder due to the loss of SLC6A8 gene and presenting with low brain creatine, intellectual disability, autistic-like behaviour and seizures.
Montani C, Iovino L, Di Vetta F, Pasquin Mariani JR, De Guzman AE, Gini S, Galbusera A, D'Epifanio B, Ghirardini E, Cornuti S, Dadà L, Putignano E, Alessandrì MG, Vasirani G, Bertozzi SM, Armirotti A, Baroncelli L, Gozzi A.   +17 more
europepmc   +2 more sources

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts. [PDF]

PLoS One
Creatine is a critical metabolite used to buffer cellular energy demands in highly energetic tissues such as the brain and muscle. Genetic defects in endogenous creatine synthesis or transport across cellular membranes lead to a common set of phenotypes ...
Wells C, Sorgenfrei J, Johnson SL, Albertson D, Rutter J, Baker SA.   +5 more
europepmc   +2 more sources

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. [PDF]

Am J Med Genet A, 2023
Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports.
Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S.   +9 more
europepmc   +2 more sources

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. [PDF]

Pediatr Neurol
Background: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).
Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.   +45 more
europepmc   +2 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

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li   +4 more
doaj   +3 more sources

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder [PDF]

Pediatrics, 2020
Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis.
Yıldız, YILMAZ, Haliloğlu, G, Coşkun, T, Yaramış, A, Göçmen, R   +4 more
openaire   +4 more sources

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

Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapy

bioRxiv
Creatine Transporter Deficiency (CTD) is an X-linked disorder due to the loss of SLC6A8 gene and presenting with low brain creatine, intellectual disability, autistic-like behavior and seizures.
Montani C, Iovino L, Vetta FD, Pasquin Mariani JR, De Guzman AE, Gini S, Galbusera A, D’Epifanio B, Ghirardini E, Cornuti S, Dadà L, Putignano E, Alessandrì MG, Vasirani G, Bertozzi SM, Armirotti A, Baroncelli L, Gozzi A.   +17 more
europepmc   +2 more sources