Results 51 to 60 of about 2,677 (178)

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation

American Journal of Medical Genetics Part A, 2023
AbstractSeizures 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. In this prospective observational study, we report seizure characteristics and EEG findings in combination with ...
Abdennadher, Myriam, Inati, Sara K., Rahhal, Samar, Khan, Omar, Bartolini, Luca, Thurm, Audrey, Theodore, William, Miller, Judith S., Porter, Forbes D., Bianconi, Simona   +9 more
openaire   +2 more sources

Mediterranean vs. Western diet effects on the primate cerebral cortical pre-synaptic proteome: Relationships with the transcriptome and multi-system phenotypes. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Diet quality mediates aging‐related risks of cognitive decline, neurodegeneration, and Alzheimer's disease (AD) through poorly defined mechanisms. METHODS The effects of diet on the presynaptic proteome of the temporal cortex were assessed in 36 female cynomolgus macaques randomized to Mediterranean or Western diets for 31 months.
Berson E, Frye BM, Gajera CR, Saarunya G, Perna A, Phongpreecha T, Shome S, Negrey JD, Aghaeepour N, Montine TJ, Craft S, Register TC, Shively CA.   +12 more
europepmc   +2 more sources

Vaimse arengu mahajäämuse geneetilised põhjused: X-liiteline vaimse arengu mahajäämus [PDF]

, 2007
Üheks kõige sagedasemaks raske puude põhjuseks lastel ja noortel on vaimse arengu mahajäämus (VAM). Vaatamata sellele, et välja on töötatud palju erinevaid uurimis meetodeid, jääb enamik neist patsientidest praegugi veel täpse diagnoosita.
Kurg, Ants, Männik, Katrin, Parkel, Sven, Puusepp, Helen   +3 more
core   +2 more sources

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

Global gene expression analysis of early response to chemotherapy treatment in ovarian cancer spheroids [PDF]

, 2008
Background Chemotherapy (CT) resistance in ovarian cancer (OC) is broad and encompasses diverse unrelated drugs, suggesting more than one mechanism of resistance.
Tetu Bernard, Bachvarova Magdalena, L'Espérance Sylvain, Mes-Masson Anne-Marie, Bachvarov Dimcho   +4 more
core   +2 more sources

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

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers [PDF]

, 2018
While it was thought that most of cerebral creatine is of peripheral origin, AGAT and GAMT are well expressed in CNS where brain cells synthesize creatine.
Braissant, Olivier
core  

The skeletal muscle–adipose creatine metabolic axis: A novel paradigm for lipid metabolism reprogramming and obesity management

Experimental Physiology, EarlyView.
Abstract The global prevalence of obesity and related metabolic disorders has spurred interdisciplinary research to develop new intervention strategies. Current research is increasingly focusing on the exercise‐induced browning of white adipose tissue and the mechanisms by which it improves energy metabolism.
Yuhui Su, Na Liu, Yang Liu, Yiqun Sun, Yike Jiao   +4 more
wiley   +1 more source

Optimal neuromuscular performance requires motor neuron phosphagen kinases

The Journal of Physiology, Volume 604, Issue 5, Page 2027-2059, 1 March 2026.
Abstract figure legend Motor neuron (MN) terminals in fruit flies, mice and humans contain phosphagen kinases, a key enzyme in their energy storage and buffering system. Here we knocked down the primary phosphagen kinase in fruit fly larvae (arginine kinase 1 (ArgK1)) but were surprised to find that MN endurance was unaffected.
Karlis A. Justs, Danielle V. Latner (nee Riboul), Carlos D. Oliva, Yosuf Arab, Gabriel G. Bonassi, Olena Mahneva, Sarah Crill, Sergio Sempertegui, Paul A. Kirchman, Yaouen Fily, Gregory T. Macleod   +10 more
wiley   +1 more source

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]

, 2018
Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core