Results 31 to 40 of about 6,531 (222)

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome [PDF]

The American Journal of Human Genetics, 2001
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal.
Salomons, Gajja S., van Dooren, Silvy J.M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis   +6 more
openaire   +3 more sources

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort [PDF]

Orphanet Journal of Rare Diseases
Background Creatine Transporter Deficiency (CTD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the SLC6A8 gene, leading to a deficiency of cerebral Creatine.
Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei, Claudia Casalini, Simona Balestrini, Luciana Tramacere, Pierfrancesco Ambrosi, Michela Tosetti, Renzo Guerrini, Roberta Battini   +9 more
doaj   +2 more sources

X‐linked creatine transporter deficiency: clinical aspects and pathophysiology

Journal of Inherited Metabolic Disease, 2014
AbstractCreatine transporter deficiency was discovered in 2001 as an X‐linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency.
van de Kamp, J.M., Mancini, G.M., Salomons, G.S.   +2 more
openaire   +3 more sources

Dodecyl Creatine Ester and Lipid Nanocapsule: A Double Strategy for the Treatment of Creatine Transporter Deficiency [PDF]

Nanomedicine, 2014
Creatine transporter (CT) deficiency is characterized by mutations in the gene encoding CT, leading to impaired transport of creatine at the cell membrane. Patients with this disease would thus benefit from replenishment of creatine inside the brain cells.We report a therapeutic strategy based on the use of dodecyl creatine ester incorporated into ...
Trotier-Faurion, Alexandra, Passirani-Malleret, Catherine, Bejaud, Jérôme, Dézard, Sophie, Valayannopoulos, Vassili, Taran, Fréderic, de Lonlay, Pascale, Benoit, Jean-Pierre, Mabondzo, Aloïse   +8 more
openaire   +6 more sources

New insights into creatine transporter deficiency [PDF]

, 2020
Creatine (Cr) transporter deficiency (CCDS1) is a very rare and severe condition due to impaired energetic metabolism. In this work we showed for the first time the following facts: this diseases is a progressive neurodegenerative disorder in which a set of maladaptive compensatory mechanisms leads to a progressive damage of brain functions; cell ...
molinaro, angela
openaire   +3 more sources

X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

Annals of Neurology, 2002
AbstractAmong creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a ...
Bizzi, A., Bugiani, M., Salomons, G. S., Hunneman, Donald H., Moroni, I., Estienne, M., Danesi, U., Jakobsen, Jannik E., Uziel, G.   +8 more
openaire   +4 more sources

Upregulation of the Creatine Transporter Slc6A8 by Klotho

Kidney & 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, Mentor Sopjani, Bernat Elvira, José Borras, Miribane Dërmaku-Sopjani, Carlos Munoz, Jamshed Warsi, Undine E. Lang, Florian Lang   +8 more
doaj   +2 more sources

Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” [PDF]

Molecular Genetics and Metabolism Reports, 2023
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter   +14 more
doaj   +2 more sources

Chemical optimization of creatine derivatives for the treatment of creatine transporter deficiency

, 2013
Creatine transporter deficiency is a rare brain disease associated with the loss of function of the SLC6A8 (creatine transporter) leading to an absence of creatine at the cerebral level and to a dramatic neurodevelopmental retardation in the children.
Trotier-Faurion, Alexandra
openaire   +2 more sources

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Orphanet Journal of Rare Diseases, 2020
Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews   +4 more
doaj   +1 more source