Results 31 to 40 of about 1,441 (115)

Negative Regulation of the Creatine Transporter SLC6A8 by SPAK and OSR1

Kidney & Blood Pressure Research, 2014
Background/Aims: Transport regulation involves several kinases including SPAK (SPS1-related proline/alanine-rich kinase) and OSR1 (oxidative stress-responsive kinase 1), which are under control of WNK (with-no-K[Lys]) kinases.
Myriam Fezai, Bernat Elvira, Jose Borras, Mossadok Ben-Attia, Zohreh Hoseinzadeh, Florian Lang   +5 more
doaj   +1 more source

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review

Brain Sciences, 2023
(1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement ...
Jiaqing Li, Sanqing Xu
doaj   +1 more source

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Orphanet Journal of Rare Diseases, 2012
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD).
Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph   +30 more
doaj   +1 more source

Tumour‐derived small extracellular vesicles suppress CD8+ T cell immune function by inhibiting SLC6A8‐mediated creatine import in NPM1‐mutated acute myeloid leukaemia

Journal of Extracellular Vesicles, 2021
Acute myeloid leukaemia (AML) carrying nucleophosmin (NPM1) mutations has been defined as a distinct entity of acute leukaemia. Despite remarkable improvements in diagnosis and treatment, the long‐term outcomes for this entity remain unsatisfactory ...
Meixi Peng, Jun Ren, Yipei Jing, Xueke Jiang, Qiaoling Xiao, Junpeng Huang, Yonghong Tao, Li Lei, Xin Wang, Zailin Yang, Zesong Yang, Qian Zhan, Can Lin, Guoxiang Jin, Xian Zhang, Ling Zhang   +15 more
doaj   +1 more source

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

Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency

Radiology Case Reports, 2022
Creatine transporter deficiency is an X-linked genetic disorder caused by a variant in the SLC6A8 gene located on the X chromosome (Xq28). This condition varies in severity with features often including intellectual disabilities, speech delay, autistic ...
Katherine Morey, Barbara Hallinan, MD, PhD, Kim M. Cecil, PhD   +2 more
doaj   +1 more source

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

BMC Medical Genetics, 2018
Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems.
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie   +5 more
doaj   +1 more source

Epigenetic‐Based Evidence for Distinct Effects of Age, Sex, and Experience in Developmental Critical Period Learning

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Although much is known about the encoding of experience, how the brain organizes neural circuits capable of learning and memory formation is largely unstudied. Canonical critical periods emerge from a convergence of maturation‐ and experience‐dependent processes.
Grant W. Kunzelman, Alice Batistuzzo, Sarah E. London   +2 more
wiley   +1 more source

Is creatine a CNS neurotransmitter?

eLife, 2023
A range of experiments suggests that creatine, a molecule known for recycling ATP in muscle and brain tissue, may also function as a neurotransmitter in the central nervous system.
Bhagaban Mallik, C Andrew Frank
doaj   +1 more source

From extracellular entry to intracellular release: A water‐assisted transport cycle for creatine in SLC6A8

Protein Science, Volume 35, Issue 7, July 2026.
Abstract The creatine transporter (CRT/SLC6A8) plays a key role in cellular energy homeostasis, yet the molecular mechanism underlying creatine transport remains poorly understood. Here, we reconstruct the complete transport cycle of human CRT using a hybrid simulation strategy that combines constant‐force steered molecular dynamics (cf‐sMD) with ...
Pitambar Poudel, Shailesh Kumar Panday, Emil Alexov   +2 more
wiley   +1 more source