Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year old boy with an intellectual disability, speech and language delay and motor disturbance. Methods: A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS) were carried out, the creatine and creatinine concentrations in the urine were checked and all exons were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the heterozygosity of the exon 10: c.1395-c.1401 deletion. Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration sequencing and a brain MRS, should be considered, in order to determine any neurometabolic diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis, hence causing central nervous system symptoms.
Carrier Proteins

No abstract available.
Carrier Proteins* ; Vitamin A*

No abstract available.
Carrier Proteins ; Humans ; Insulin

Carrier Proteins ; Autophagy ; Lipid Metabolism

No abstract available.
Animals ; Carrier Proteins* ; Chemokine CCL5* ; Macrophages* ; Mice*

Background: Human Heparansulphate interacting protein (hHip) has been shown to participate in biological processes of cells. Several studies indicated that hHip transcript is up regulated in several of cancer tissues including those of thyroid, colon, breast and prostate. Antibody against hHIP is necessary for methods to evaluate protein level of HIP in cancer tissues. Objectives:The aims of study was to induce anti hHIP antibody in rabbit and purify and conserve purified anti hHIP antibody. Subjects and method: The study included 9 adult and healthy rabbits with the weight 2 - 2.5kg. Immunization hHIP peptide-KLH in rabbit. Purify anti hHIP antibody using affinity chromatography. Results: The results shown synthesize hHIP peptide and conjugate it with carrier protein. Sensitive rabbit better meet with hHIP-KLH antibody. The Ig concentration obtained in sensitive rabbit was rather high and equal. Immunization hHIP-KLH successfully in rabbit. Obtainment valuable amount of anti hHIP antibody. Conclusion: Successfully induce and purify anti hHIP antibody from rabbit. Establish a standard protocol for polyclonal antibody against small peptide in rabbit.\r\n', u'\r\n', u'
Carrier Proteins/ administration & ; dosage ; chemistry ; Rabbits

No abstract available.
Biomarkers* ; Carrier Proteins* ; Glycosylation* ; Liver Cirrhosis* ; Liver*

No abstract available.
Carrier Proteins ; Guanosine Triphosphate ; Signal Transduction

Humans ; Muscle Proteins/genetics* ; Carrier Proteins/genetics* ; Syndrome

Renal tubule and vasa recta are arranged in complex but specific anatomic relationships and the production of a concentrated urine is achieved by countercurrent multiplication mechanism in the renal medulla. This model requires that the ascending thin limb is highly permeable to NaCl but impermeable to water, while the descending thin limb is impermeable to NaCl but highly permeable to water. The single effect in the outer medulla is active NaCl reabsorption by the thick ascending limb of Henle, which is the primary energy source of urine concentration. On the other hand, the single effect for inner medullary concentration is the passive efflux of NaCl from the thin ascending limb, which requires a high concentration of interstitial urea that is reabsorbed from the terminal inner medullary collecting duct. The hypothesis has been supported by micorpuncture studies or isolated perfused tubule studies until early 1990s. In recent 10 years, many transport proteins involved in the urine concentrating mechanism have been cloned, which enabled us to understand how a concentrated urine is produced, how this process is regulated and the specific transport process that are involved, proving the countercurrent multiplication hypothesis. In this review, the transport properties of outer and inner medullary nephron segments and the transport proteins involved in the transport of NaCl, water(aquaporins), and urea(urea transporters) will be reviewed.
Carrier Proteins* ; Clone Cells ; Extremities ; Hand ; Nephrons ; Urea ; Water