Results 11 to 20 of about 1,836 (142)

CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport

OncoImmunology, 2023
Pancreatic cancer (PC) is featured with low survival rate and poor outcomes. Herein, we found that the expression of caspase-recruitment domain-containing protein 9 (CARD9), predominantly expressed in innate immune cells, was positively related to the ...
Ming Xiang, Cheng Tian
exaly   +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

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +2 more sources

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   +2 more sources

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines. [PDF]

Hum Mutat
Purpose The 2015 guidelines recommend using a large, diverse, and race‐matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene‐specific interpretations of ACMG/AMP guidelines, including population information.
Wang X, Zhang T, Qin Y, Zou Y, Luo H, Li H, Song J.   +6 more
europepmc   +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   +2 more sources

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   +2 more sources

Exogenous creatine supplementation promotes tumor metastasis via megakaryocyte creatine kinase B-STAT5B signaling [PDF]

Nature Communications
Creatine supplementation is widely used in sports and increasingly popular among exercising individuals. Although the physiological role of creatine has been extensively studied, the creatine biology in pathological conditions remains poorly understood ...
Sisi Xie, Ruibo Chen, Xiaoting Sun, Xiaolei Ni, Yuting Wu, Linli Cai, Yangyi Chen, Shuangming Lin, Mei Rao, Liling Chen, Yintao Li, Yanyong Xu, Minfeng Chen, Dongmei Zhang, Shun Zhu, Ling Yang, Wen Liu, Ji Zuo, Yunlong Yang   +18 more
doaj   +2 more sources

CARD9 Conveys Pancreatic Islet Sympathetic Nervous β2 Signals to Reshape Macrophage Creatine Metabolism in Type 1 Diabetes. [PDF]

Adv Sci (Weinh)
This study identifies CARD9 as a key mediator linking sympathetic β2‐adrenergic receptor signaling to macrophage creatine metabolism, inflammatory polarization, and neuronal integrity. Loss of β2‐AR‐PKA‐CREB1‐CARD9 signaling in macrophages reduces creatine uptake, promotes pro‐inflammatory macrophage activation, and drives sympathetic axon ferroptosis.
Yuan H, Li S, Liu S, Zhou H, Xu Y, Li W, Wang M, Wang M, Zheng M, Shi W, Li X, Feng Y, Xiang M.   +12 more
europepmc   +2 more sources

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Molecular Genetics & Genomic Medicine, 2021
Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Huimin Zhao, Kaili Shi
exaly   +2 more sources