Results 51 to 60 of about 1,836 (142)

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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

, 2015
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy.
van de Kamp, J.M., Errami, A, Osaka, H, Salomons, GS, Mancini, G.M., Steinberg, S.J., Osaka, H., Winter, S, Winter, S., Phalin-Roque, J, A. Errami, Howidi, M., van Dooren, S.J.M., Howidi, M, Steinberg, SJ, H. Osaka, J.M. van de Kamp, Salomons, G., S.J. Steinberg, I. Anselm, G.M. Mancini, van de Kamp, JM, Verheijen - Mancini, Grazia, Anselm, I., J. Phalin‐Roque, S.J.M. van Dooren, van Dooren, SJM, S. Winter, G.S. Salomons, Errami, A., Phalin-Roque, J., M. Howidi, Anselm, I   +32 more
core   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8

, 2017
Creatine transporter (CrT; SLC6A8) deficiency (CTD) is an X-linked disorder characterized by severe cognitive deficits, impairments in language, and an absence of brain creatine (Cr).
Kenea C. Udobi, Julie Coene, Michael T. Williams, Matthew R Skelton, Aloïse Mabondzo, Amanda N. Kokenge, Emily R. Hautman, Gabriela Ullo, Charles V. Vorhees   +8 more
core   +1 more source

Therapeutic targeting of SLC6A8 creatine transporter suppresses colon cancer progression and modulates human creatine levels [PDF]

, 2021
Colorectal cancer (CRC) is a leading cause of cancer mortality. Creatine metabolism was previously shown to critically regulate colon cancer progression.
Tian, Helen S, Andreu-Agullo, Celia, Hendifar, Andrew E, Yamaguchi, Norihiro, Strauss, James, McRee, Autumn J, Cercek, Andrea, Szarek, Michael, Tavazoie, Masoud F, Kurth, Isabel, Tavazoie, Sohail F, Gonsalves, Foster C, Busby, Robert, Raza, Syed, Barlas, Afsar, Loo, Jia Min, Wasserman, Robert, Bendell, Johanna C, Sridhar, Subhasree, Rosen, Lee S, Manova-Todorova, Katia, Spector, Scott L, Fakih, Marwan, Takeda, Shugaku   +23 more
core   +1 more source

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

, 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.
van Dooren, Silvy J.M., Salomons, Gajja S., Degrauw, Ton J., Cecil, Kim M., Ball, William S., Jakobs, Cornelis, Verhoeven, Nanda M.   +6 more
core   +1 more source

Brown Adipose Tissue: Molecular Mechanisms of Regulation, Physiological Functions, and Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
This review systematically covers three core dimensions of brown adipose tissue (BAT): multilayered regulatory mechanisms governing brown adipocyte differentiation and phenotypic identity, physiological functions and signaling pathways in mediating thermogenesis and systemic metabolic crosstalk between BAT and multiple organs, and emerging clinical in ...
Xiaoli Deng, Yuanyuan Shen, Ying Sun, Lu Lu, Chongkui Sun   +4 more
wiley   +1 more source

Use of the “Ru‐1O2‐Hydrazide” System Catalyzed by Metallic Ruthenium Complexes to Decipher the Interaction Between Microbes and Host Cancer Cells

Advanced Science, Volume 13, Issue 52, 18 September 2026.
ABSTRACT The dynamic interplay between bacteria and host cancer cells plays a critical role in tumor microenvironment modulation, bacterial pathogenesis, and potential oncotherapy applications. However, traditional methods often fail to capture transient or spatially restricted molecular interactions at the bacteria‐cancer cell interface.
Amin Sun, Kaihong Wang, Haifu Sun, Kemei Tao, Xiang Li, Xiuhua Zhao, Shuang Qiu   +6 more
wiley   +1 more source