Results 121 to 130 of about 13,220 (172)

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

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   +1 more source

RESPONSE TO CREATINE ANALOGOUS SUPPLEMENTATION IN CREATINE TRANSPORTER DEFICIENCY

, 2009
Campistol-Plana J, Fons-Estupina C, Arias AY, Poo P, López-Sala A, Mas A, Ribes A, Artuch-Iriberri R   +7 more
openaire   +2 more sources

Myopathy due to a creatine deficiency disorder in a family of mixed breed dogs with a glycine amidinotransferase gene mutation. [PDF]

J Vet Intern Med
Leonardi H, Minor KM, Fritz J, Friedenberg SG, Cullen JN, Guo LT, Shelton GD.   +6 more
europepmc   +1 more source

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency. [PDF]

Int J Mol Sci
Binsfeld R, Webster T, Tkachyova I, Tropak M, Mitchell M, Peretti T, Schulze A, Walia JS.   +7 more
europepmc   +1 more source

Guanidino compounds with native GABA(A) δ receptor selectivity: a tale of homeostatic compensation in δ-KO mice. [PDF]

BMC Neurosci
Meera P, Uusi-Oukari M, Wallner M, Lipshutz GS.   +3 more
europepmc   +1 more source

Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis. [PDF]

Orphanet J Rare Dis
Wasim M, Khan HN, Wang Y, Ma G.
europepmc   +1 more source

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT). [PDF]

Proc Natl Acad Sci U S A
Yuan X, Yin J, Liu C, Chen X, Chen M, Wang Y, Yang Z, Wang Y, Jiang L, Zhou N, Wang X, Liu B, Ma Z, Wang K, Li H, Zhang S, Shang Y, Yang M.   +17 more
europepmc   +1 more source

Epilepsy spectrum in cerebral creatine transporter deficiency. Genothype correlation

, 2008
Fons, C, Sanmarti, F, Sempere, A, Poo, P, Pineda, M, Arias, A, Ribes, A, Artuch, R, Vilaseca, MA, Campistol, J   +9 more
openaire   +2 more sources

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Creatine transport and pathological changes in creatine transporter deficient mice

Journal of Inherited Metabolic Disease, 2021
AbstractThe severe impact on brain function and lack of effective therapy for patients with creatine (Cr) transporter deficiency motivated the generation of three ubiquitous Slc6a8 deficient mice (−/y). While each mouse knock‐out line has similar behavioral effects at 2 to 3 months of age, other features critical to the efficient use of these mice in ...
Adam M. Wawro, Chandresh R. Gajera, Steven A. Baker, Jeffrey J. Nirschl, Hannes Vogel, Thomas J. Montine   +5 more
openaire   +2 more sources