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slc6a8 (37) 37
science & technology (36) 36
life sciences & biomedicine (35) 35
humans (33) 33
creatine (29) 29
male (24) 24
genetics & heredity (22) 22
plasma membrane neurotransmitter transport proteins - genetics (19) 19
nerve tissue proteins - genetics (17) 17
plasma membrane neurotransmitter transport proteins - deficiency (17) 17
creatine - deficiency (16) 16
mental retardation, x-linked - genetics (16) 16
mutation (16) 16
creatine - metabolism (15) 15
female (15) 15
child (13) 13
biological and medical sciences (11) 11
creatine - genetics (11) 11
creatine transporter deficiency (11) 11
membrane transport proteins - genetics (11) 11
brain diseases, metabolic, inborn - genetics (10) 10
medical sciences (10) 10
animals (9) 9
creatine transporter (9) 9
magnetic resonance spectroscopy (9) 9
cells, cultured (8) 8
intellectual disability - genetics (8) 8
mental retardation (8) 8
mental retardation, x-linked - diagnosis (8) 8
nerve tissue proteins - deficiency (8) 8
analysis (7) 7
autism (7) 7
brain (7) 7
medical genetics (7) 7
mental retardation, x-linked - metabolism (7) 7
adolescent (6) 6
brain - metabolism (6) 6
gamt (6) 6
membrane transport proteins - metabolism (6) 6
neurology (6) 6
neurosciences & neurology (6) 6
physiological aspects (6) 6
plasma membrane neurotransmitter transport proteins - metabolism (6) 6
slc6a8 gene (6) 6
urine (6) 6
adult and adolescent clinical studies (5) 5
agat (5) 5
base sequence (5) 5
brain - pathology (5) 5
brain diseases, metabolic, inborn - metabolism (5) 5
creatinine (5) 5
endocrinology & metabolism (5) 5
epilepsy (5) 5
gene expression (5) 5
gene mutations (5) 5
genes (5) 5
genetics (5) 5
guanidinoacetate n-methyltransferase - genetics (5) 5
infant (5) 5
intellectual deficiency (5) 5
intellectual disability (5) 5
life sciences (5) 5
medicine, research & experimental (5) 5
mental retardation, x-linked - pathology (5) 5
metabolism (5) 5
neurosciences (5) 5
psychology. psychoanalysis. psychiatry (5) 5
psychopathology. psychiatry (5) 5
research & experimental medicine (5) 5
seizures (5) 5
x-linked mental retardation (5) 5
adult (4) 4
amidinotransferases - genetics (4) 4
biochemistry & molecular biology (4) 4
biomedicine (4) 4
brain diseases, metabolic, inborn - diagnosis (4) 4
child, preschool (4) 4
creatine - analysis (4) 4
creatine - urine (4) 4
developmental disabilities - genetics (4) 4
fibroblasts (4) 4
fibroblasts - metabolism (4) 4
fundamental and applied biological sciences. psychology (4) 4
gene deletion (4) 4
general aspects. genetic counseling (4) 4
genetic aspects (4) 4
genetics of eukaryotes. biological and molecular evolution (4) 4
guanidinoacetate (4) 4
guanidinoacetate n-methyltransferase - metabolism (4) 4
heterozygote (4) 4
magnetic resonance imaging (4) 4
medical research (4) 4
medicine (4) 4
mental illness (4) 4
middle aged (4) 4
molecular sequence data (4) 4
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x-linked (4) 4
amidinotransferases - metabolism (3) 3
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1. Full Text Creatine deficiency syndromes and the importance of creatine synthesis in the brain
by Braissant, Olivier and Henry, Hugues and Béard, Elidie and Uldry, Joséphine
Amino acids, ISSN 0939-4451, 5/2011, Volume 40, Issue 5, pp. 1315 - 1324
Biochemistry, general | GAMT | Brain | Neurobiology | AGAT | Creatine | Guanidinoacetate | Life Sciences | Analytical Chemistry | SLC6A8 | Life Sciences, general | Proteomics | Biochemical Engineering | Creatine deficiency syndromes | Brain - metabolism | Animals | Deficiency Diseases - pathology | Humans | Creatine - metabolism | Brain - pathology | Deficiency Diseases - metabolism | Creatine - deficiency | Creatine - chemistry | Physiological aspects | Medical errors | Index Medicus
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2. Full Text A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: Case report 06 Biological Sciences 0604 Genetics
by Wang, Qin and Yang, Jingxin and Liu, Yang and Li, Xingping and Luo, Fuwei and Xie, Jiansheng
BMC medical genetics, 11/2018, Volume 19, Issue 1
X-linked | SLC6A8 | Intellectual disabilities | Creatine transporter deficiency (CRTR-D) | Targeted exome sequencing
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3. Full Text Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts
by Joncquel-Chevalier Curt, Marie and Bout, Marie-Adélaïde and Fontaine, Monique and Kim, Isabelle and Huet, Guillemette and Bekri, Soumeya and Morin, Gilles and Moortgat, Stéphanie and Moerman, Alexandre and Cuisset, Jean-Marie and Cheillan, David and Vamecq, Joseph
Molecular genetics and metabolism, ISSN 1096-7192, 04/2018, Volume 123, Issue 4, pp. 463 - 471
SLC6A8 gene | Guanidino metabolites | Male hemizygotes | Female carriers | X-linked disorder | Creatine | D3-creatine | Creatine transporter | UPLC/tandem MS | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Prognosis | Follow-Up Studies | Humans | Nerve Tissue Proteins - deficiency | Child, Preschool | Infant | Male | Case-Control Studies | Mental Retardation, X-Linked - genetics | Creatine - metabolism | Brain Diseases, Metabolic, Inborn - pathology | Creatine - deficiency | Female | Brain Diseases, Metabolic, Inborn - genetics | Child | Fibroblasts - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Creatine - genetics | Brain Diseases, Metabolic, Inborn - metabolism | Mental Retardation, X-Linked - pathology | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Fibroblasts - pathology | Nerve Tissue Proteins - genetics | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Adolescent | Mutation | Cohort Studies | Mental Retardation, X-Linked - metabolism | Physiological aspects | Metabolites | Analysis | Index Medicus | Life Sciences
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4. Full Text Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
by Frints, Suzanne
Molecular genetics and metabolism, ISSN 1096-7192, 04/2012, Volume 105, Issue 4, pp. 596 - 601
LOVD | SLC6A8 | DHPLC | Missense variants | Creatine transporter
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5. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Index Medicus | Life Sciences
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6. Full Text Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses
by Ji, Liangliang and Zhao, Xinbin and Zhang, Bin and Kang, Lan and Song, Wenxin and Zhao, Baohong and Xie, Wei and Chen, Ligong and Hu, Xiaoyu
Immunity (Cambridge, Mass.), ISSN 1074-7613, 08/2019, Volume 51, Issue 2, pp. 272 - 284.e7
creatine transporter | macrophage polarization | Slc6a8 | immunometabolism | L-arginine | creatine | Life Sciences & Biomedicine | Immunology | Science & Technology | Macrophages - physiology | Signal Transduction | Humans | Mice, Inbred C57BL | Cells, Cultured | Interferon-gamma - metabolism | Liver Cirrhosis - chemically induced | Cellular Reprogramming | Mice, Knockout | Phenotype | Animals | Membrane Transport Proteins - genetics | Creatine - metabolism | Liver Cirrhosis - metabolism | Tetrachloroethylene | Membrane Transport Proteins - metabolism | Cell Differentiation | Mice | Immunity, Cellular | Arginine - metabolism | Enzymes | Medical colleges | Immune response | Genes | Biological response modifiers | Macrophages | Creatine | Gene expression | Antibacterial agents | Interleukins | Arginine | Analysis | Physiological aspects | Interferon | Polarization | Interleukin | Arginase | Biosynthesis | Energy reserves | Kinases | Experiments | Interleukin 4 | Metabolites | Genetic analysis | Physiology | Catalysis | Stat1 protein | Deoxyribonucleic acid--DNA | Immune system | Statistical analysis | Cytokines | Metabolism | Ablation | Nitric-oxide synthase | Chromatin remodeling | Musculoskeletal system | Brain research | Depletion | γ-Interferon | Stat6 protein | Software | Laboratory animals | Transporter | Index Medicus
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7. Full Text Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder
by Brugger, Melanie and Brunet, Theresa and Wagner, Matias and Orec, Laura Elena and Schwaibold, Eva Maria Christina and Boy, Nikolas
Gene, ISSN 0378-1119, 02/2021, Volume 768, pp. 145260 - 145260
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Autism Spectrum Disorder - genetics | Creatine - genetics | Genetic Testing | Muscle Hypotonia - genetics | Humans | Male | Developmental Disabilities - genetics | Nerve Tissue Proteins - genetics | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Intellectual Disability - genetics | Whole Exome Sequencing | Mental Retardation, X-Linked - genetics | Comparative Genomic Hybridization | Gene Duplication - genetics | Creatine - deficiency | Female | Brain Diseases, Metabolic, Inborn - genetics | Child | Chromosomes, Human, Pair 16 - genetics | Siblings | Autism | Medical colleges | Genetic disorders | Analysis | Genomics | Cytogenetics | Nuclear magnetic resonance spectroscopy | Information management | Creatine | Mental illness | Pediatric neurology | Genetic screening | Index Medicus
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8. Full Text A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
by Stockebrand, M and Sasani, Ali and Das, D and Hornig, Soenke and Hermans-Borgmeyer, I and Lake, Hannah A and Heerschap, A and Neu, A and Choe, C.-U
Frontiers in physiology, ISSN 1664-042X, 2018, Volume 9, pp. 773 - 773
Energy metabolism | Slc6a8 | In vivo magnetic spectroscopy | Creatine transporter | Guanidinoacetate N-methyltransferase (GAMT) | L-arginine:glycine amidinotransferase (AGAT) | Skeletal muscle | Glycine amidinotransferase (GATM) | Life Sciences & Biomedicine | Physiology | Science & Technology | Research | Bioenergetics | Creatine | Analysis | in vivo magnetic spectroscopy | creatine transporter | guanidinoacetate N-methyltransferase (GAMT) | skeletal muscle | energy metabolism
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9. Full Text A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study
by Molinaro, Angelo and Molinaro, Angelo and Alessandrì, Maria Grazia and Putignano, Elena and Leuzzi, Vincenzo and Cioni, Giovanni and Baroncelli, Laura and Baroncelli, Laura and Pizzorusso, Tommaso
Scientific reports, ISSN 2045-2322, 01/2019, Volume 9, Issue 1, pp. 62 - 62
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Neurons - pathology | Animals | Mental Retardation, X-Linked - pathology | Endophenotypes | Neuroglia - pathology | Mice, Inbred C57BL | Brain Diseases, Metabolic, Inborn - pathology | Creatine - deficiency | Cognitive Dysfunction - physiopathology | Disease Models, Animal | Nestin | Phenotypes | Animal models | Exons | Cognitive ability | Nervous system | Recombinase | Glial cells | Gene deletion | Neurodevelopmental disorders | Creatine | Neuronal-glial interactions | Cre recombinase | Autism | Clonal deletion | Seizures | Index Medicus
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10. Full Text Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
by Ibarluzea, Nekane and de la Hoz, Ana Belen and Villate, Olatz and Llano, Isabel and Ocio, Intzane and Marti, Itxaso and Guitart, Miriam and Gabau, Elisabeth and Andrade, Fernando and Gener, Blanca and Tejada, Maria-Isabel
Genes, ISSN 2073-4425, 01/2020, Volume 11, Issue 1, p. 51
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus | iqsec2 | med12 | x-linked intellectual disability | next-generation sequencing | huwe1 | slc9a6 | phf8 | slc6a8 | gene panel | syn1
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