Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 and total tau are abnormal in Alzheimer disease (AD),...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: Elsevier 2023-12-01
Σειρά:Molecular Genetics and Metabolism Reports
Θέματα:
Creatine transporter deficiency
SLC6A8
Amyloid beta peptides
Tau protein
Cerebrospinal fluid
Cerebral energy deficiency
Διαθέσιμο Online:http://www.sciencedirect.com/science/article/pii/S2214426923000472

Διαδίκτυο

http://www.sciencedirect.com/science/article/pii/S2214426923000472

Παρόμοια τεκμήρια