Advanced search    

Search: authors:"Sung-Chul Jung"

16 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

Epithelial–Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide

Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium. Globotriaosylsphingosine (lyso-Gb3), a deacylated Gb3, is also increased in the plasma of patients with Fabry disease. Renal fibrosis is a key feature of advanced Fabry disease patients...

HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation

,1 So-Youn Woo,1 Young Bin Hong,2 Heesun Choi,3 Jisoo Kim,3 Hyunjung Choi,3 Inhee Mook-Jung,3 Nina Ha,4 Jangbeen Kyung,4 Soo Kyung Koo,5 Sung-Chul Jung,6 and Byung-Ok Choi7 1Department of Microbiology ... the manuscript. Young-Bin Hong and Sung-Chul Jung were responsible for conception, design of experiments, and editing the manuscript. Byung-Ok Choi was responsible for the collection of patient samples

HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation

and preparation of the manuscript. Young-Bin Hong and Sung-Chul Jung were responsible for conception, design of experiments, and editing the manuscript. Byung-Ok Choi was responsible for the collection

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

Background Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive liver failure with seldom development of progressive neurologic involvement. Methods Whole exome sequencing (WES) was performed to isolate the causative gene...

Overexpression of mutant HSP27 causes axonal neuropathy in mice

Background Mutations in heat shock 27 kDa protein 1 (HSP27 or HSPB1) cause distal hereditary motor neuropathy (dHMN) or Charcot-Marie-Tooth disease type 2 F (CMT2F) according to unknown factors. Mutant HSP27 proteins affect axonal transport by reducing acetylated tubulin. Results We generated a transgenic mouse model overexpressing HSP27-S135F mutant protein driven by...

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

Background Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe neonatal presentation with cardiomyopathy, hepatic form with recurrent hypoketotic...

Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer

Background Enzyme replacement therapy (ERT) with α-galactosidase A (α-Gal A) is currently the most effective therapeutic strategy for patients with Fabry disease, a lysosomal storage disease. However, ERT has limitations of a short half-life, requirement for frequent administration, and limited efficacy for patients with renal failure. Therefore, we investigated the efficacy of...

Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. We also observed the phenotype differences in our...

Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss

Gaucher disease is a lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. To investigate the genes responsible for the neuronal symptoms of Gaucher disease, gene expression profiles were analyzed in brains of the Gaucher disease mouse model using a cDNA microarray, and it was found that the bcl-2 gene is down-regulated. Immunoblotting and...

Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria

Jung 3 5 Jin-Sung Lee 0 4 5 0 Brain Korea 21 Project for Medical Science Yonsei University Seoul 120-752 , Korea 1 Division of Genetic Disease Department of Biomedical Sciences National Institute of

Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector

Gaucher disease, one of the common lysosomal storage disorders, is caused by a deficiency of glucocerebrosidase (GC). We investigated gene transfer using recombinant adeno-associated viral (rAAV) vectors containing human GC cDNA driven by the human elongation factor 1-α promoter. This rAAV vector mediated efficient expression of human GC in human Gaucher fibroblasts. GC...

Long-Term Enzymatic and Phenotypic Correction in the Phenylketonuria Mouse Model by Adeno-Associated Virus Vector-Mediated Gene Transfer

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and hypopigmentation of skin and hair. Low-phenylalanine diet therapy can prevent irreversible damage if instituted from birth. However, poor compliance with the strict...

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

Mutations in the cartilage oligomeric matrix protein (COMP) gene are responsible for two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). Mutation analysis of the COMP gene in Korean patients with PSACH and MED was performed. All nine patients with PSACH had mutations in the COMP gene, while three of the five patients...

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene. Patients may develop serious clinical manifestations such as lens dislocation, mental retardation, osteoporosis, and atherothrombotic vascular disease. Over 100 mutations have been reported, but so far, none have been reported in...

Prevalence of congenital malformations and genetic diseases in Korea

A nationwide investigation of congenital malformations and genetic diseases in Korea was conducted by analyzing Medical Insurance data for infants aged under 1 year. Medical Insurance data were obtained for 1993 and 1994 and the ICD-9 (International Classification of Diseases, Ninth Revision) code was used to classify the diseases. The coverage rate of medical insurance was...

The molecular basis of phenylketonuria in Koreans

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of 79 independent Korean patients with PKU or hyperphenylalaninemia. PAH nucleotide sequence analysis revealed 39 different mutations, including ten novel mutations. The novel mutations consisted of nine missense mutations...