- Detection of point mutation at C-terminal region of phagosomal coat protein (TACO) in patients with leprosy
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Kim SK, Kang TJ, Kim BC, Chae GT
- KMID: 1516979
- Korean Lepr Bull.
- 2003 Jul;36(1):11-26.
Mycobacteria, which are highly successful pathogen, resist delivary to lysosomes and instead survive within a specialized vacuole, the mycobacterial phagosome. The bacteria survive intracellularly because they are able to actively... -
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- Serum Amino Acid Levels in Term and Preterm Neonates
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Youn YS, Kim SZ, Chang MY
- KMID: 2188581
- J Korean Soc Neonatol.
- 2006 May;13(1):90-96.
PURPOSE: This study was aimed to analyze the level of serum amino acids according to the sex, birth weight, gestational age in neonates. METHODS: Amino acid was measured by tandem... -
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- Effect of Leucine Intake on Body Weight Reduction in Rats Fed High Fat Diet
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Park HJ, Lee EJ, Kim J, Kim JY, Kwon O, Kim MK
- KMID: 2425041
- Korean J Nutr.
- 2009 Dec;42(8):714-722.
The principal objective of this study was to determine the effects of leucine on body weight reduction in high fat diet-induced overweight rats. To induce overweight, six-month-old male Sprague-Dawley rats... -
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- A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency
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Han YS, Kang HC, Lee HJ, Kim HD
- KMID: 1582226
- J Korean Child Neurol Soc.
- 2004 May;12(1):92-98.
3-Methylcrotonyl-CoA carboxylase(MCC) is a biotin-dependent enzyme involved in the leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis,... -
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- A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
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Kim JW, Huh J, Park WI, Lee KJ, Lee HJ
- KMID: 1605948
- J Korean Pediatr Soc.
- 2001 Jan;44(1):94-98.
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain alpa-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of... -
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- A Case of Hyperinsulinism/hyperammonemia Syndrome
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Sung JY, Hong SY, Shin CH, Yang SW
- KMID: 1838802
- J Korean Soc Pediatr Endocrinol.
- 2005 Dec;10(2):236-240.
The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism. The children with HI/HA syndrome present recurrent symptomatic hypoglycemia and asymptomatic, persistent hyperammonemia, caused by mutations of the GLUD1 encoding... -
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- Effects of dietary leucine supplementation on the hepatic mitochondrial biogenesis and energy metabolism in normal birth weight and intrauterine growth-retarded weanling piglets
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Su W, Xu W, Zhang H, Ying Z, Zhou L, Zhang L, Wang T
- KMID: 2412024
- Nutr Res Pract.
- 2017 Apr;11(2):121-129.
- doi: 10.4162/nrp.2017.11.2.121
BACKGROUND/OBJECTIVES: The study was conducted to evaluate the effects of dietary leucine supplementation on mitochondrial biogenesis and energy metabolism in the liver of normal birth weight (NBW) and intrauterine growth-retarded... -
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- Oral Administration of Glycine and Leucine Dipeptides Improves Skin Hydration and Elasticity in UVB-Irradiated Hairless Mice
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Park JI, Lee JE, Shin HJ, Song S, Lee WK, Hwang JS
- KMID: 2389385
- Biomol Ther.
- 2017 Sep;25(5):528-534.
- doi: 10.4062/biomolther.2017.089
Placenta is a special organ that contains many nutrients such as growth factors, minerals, and bioactive peptides. Dipeptides of glycine and leucine are major components of porcine placenta extracts (PPE)... -
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- Effects of corn gluten hydrolyzates, branched chain amino acids, and leucine on body weight reduction in obese rats induced by a high fat diet
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Bong HY, Kim JY, Jeong HI, Moon MS, Kim J, Kwon O
- KMID: 2313432
- Nutr Res Pract.
- 2010 Apr;4(2):106-113.
In this study, we compared corn gluten hydrolyzates, BCAAs, and leucine for their effects on body weight reduction in high fat-induced obese rats in order to determine the major active... -
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- The centrosomal localization of KM-HN-1 (MGC33607) depends on the leucine zipper motif and the C-terminal coiled-coil domain
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Park HJ, Seo HJ, Kim HW, Kim JS, Hwang SY, Seong YS
- KMID: 1091078
- Exp Mol Med.
- 2007 Dec;39(6):828-838.
KM-HN-1 is a C-terminal coiled-coil domain containing protein previously referred to as image clone MGC33607. This protein has been previously identified as a cancer/testis antigen and reported as nuclear and... -
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- A Case of Maple Syrup Urine Disease
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Cho DH, Lee HM, Kim SY, Ra CS
- KMID: 1945759
- J Korean Pediatr Soc.
- 1997 Sep;40(9):1297-1302.
Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). The disease is characterized by the accumulation... -
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- Effect of Several Growth Factors on Hair Follicle Growth in Hair Follicle Organ Culture
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Kim JA, Eun HC
- KMID: 2361479
- Ann Dermatol.
- 1994 Jan;6(1):42-48.
- doi: 10.5021/ad.1994.6.1.42
BACKGROUND: Factors that regulate hair matrix cell division within the hair follicles and control hair growth cycle have been poorly understood untill now. One of the main.causes seems to be... -
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- The Amino Acid Compositions of Formula for Children with Inherited Metabolic Disorder
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Ryu KH, Kim JS, Lee EH, Kwon IS, Hahn SH
- KMID: 2335559
- J Korean Pediatr Soc.
- 2002 Jan;45(1):37-43.
PURPOSE: This study aimed to determine the amino acids composition, safety and efficacy of formulas recently developed by Korean dairy companies for children with inherited metabolic disorder. METHODS: The determination of... -
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- Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
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Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH
- KMID: 2386605
- J Genet Med.
- 2017 Jun;14(1):23-26.
- doi: 10.5734/JGM.2017.14.1.23
Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes... -
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- Glutamine and Leucine Provide Enhanced Protective Immunity Against Mucosal Infection with Herpes Simplex Virus Type 1
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Uyangaa E, Lee HK, Eo SK
- KMID: 2150749
- Immune Netw.
- 2012 Oct;12(5):196-206.
- doi: 10.4110/in.2012.12.5.196
Besides their role as building blocks of protein, there are growing evidences that some amino acids have roles in regulating key metabolic pathways that are necessary for maintenance, growth, reproduction,... -
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- A Family with A Missense Mutation in the SCN5A Gene
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Shin CH, Kim NH, Kim KH, Yoo SS, Choi YB, Oh SK, Hong KM, Jeong JW, Paik MK
- KMID: 2029618
- Korean Circ J.
- 2003 Feb;33(2):150-154.
- doi: 10.4070/kcj.2003.33.2.150
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations... -
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- The Effects of Basic Fibroblast Growth Factor on Cultured Glomerular Parietal Epithelial Cells
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Ha TS, Choi Y
- KMID: 2254732
- Korean J Nephrol.
- 1997 Dec;16(4):632-641.
To elucidate the pathophysiology of crescentic glomerulonephritis, we investigated the effects of basic fibroblast growth factor(bFGF) on cultured rat parietal epithelial cells(PEC). Cultured cells were characterized as PEC by morphologic... -
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- A Case of Maple Syrup Urine Disease detected by Tandem Mass Spectrometry in Newborn Screening Test
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O CG, Jung YS, Yoo BH, Lee DK, Lim IS
- KMID: 2188691
- J Korean Soc Neonatol.
- 2003 May;10(1):88-93.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex causes accumulation of branched-chain L-amino and 2-oxo acid that can exert... -
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- Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
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Lee SH, Hong YH
- KMID: 2284108
- Korean J Pediatr.
- 2014 Jul;57(7):329-332.
- doi: 10.3345/kjp.2014.57.7.329
3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the... -
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- A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
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Moon KH, Gwon OS, Lee JI, Rho SW, Jeon SS, Seo SS
- KMID: 2335536
- J Korean Pediatr Soc.
- 2001 Apr;44(4):469-474.
Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect... -
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