Inherited disorders

Wilson disease (WD), an inherited disorder affecting copper metabolism, is characterized by hepatic cirrhosis and neuronal degeneration, which result from toxic levels of copper that accumulate in the liver and brain, respectively. We reported previously that the  1.3-kb promoter of the WD gene contains four metal response elements (MREs). Among the four MREs, MREa plays the most important role in the transcriptional activation of the WD promoter.

11p research12 01-06-2013 54 3   Download

People everywhere expected the new millennium to bring surprises. But the particular shock and horror that rippled through the international viticulture community in 2000 was most unexpected. It had been found that sixteen of the most highly prized varieties of wine-making grapes were the products of mating between the classic Pinot and the classically undervalued Gouais grape. This blew the proverbial cork off the industry's bottle because the Gouais was considered such an inferior specimen that there were even attempts to ban its cultivation in France during the Middle Ages.

8p zingzing09 24-04-2013 57 3   Download

Human acid sphingomyelinase (haSMase, EC 3.1.4.12) catalyzes the lysosomal degradation ofsphingomyelin to ceramide and phosphorylcholine. An inherited haSMase deficiency leads toNiemann–Pick disease, a severe sphingo-lipid storage disorder. The enzyme was purified and cloned over 10 years ago. Since then, only a fewstructural properties of haSMase have been elucidated.

13p tumor12 20-04-2013 35 1   Download

Cockayne syndrome (CS) is a rare inherited human genetic disorder char-acterized by developmental abnormalities, UV sensitivity, and premature aging. The CS group B (CSB) protein belongs to the SNF2-family of DNA-dependent ATPases and is implicated in transcription elongation, transcription coupled repair, and base excision repair. It is a DNA stimula-ted ATPase and remodels chromatin in vitro. We demonstrate for the first time that full-length CSB positively cooperates in ATP hydrolysis as a function of protein concentration....

9p fptmusic 11-04-2013 41 2   Download

Cystinosis is a lysosomal storage disease caused by an accumulation of insoluble cystine in the lumen of the lysosome. CTNSencodes the lyso-somal cystine transporter, mutations in which manifest as a range of disorders and are the most common cause of inherited renal Fanconi syndrome. Cystinosin, theCTNSproduct, is highly conserved among mam-mals.

15p awards 06-04-2013 38 3   Download

The GM2-activator protein (GM2AP) is an essential cofactor for the degradation of ganglioside GM2 by lyso-somal b-hexosaminidase A. It mediates the interaction between the water-soluble exohydrolase and its membrane-bound substrate at the lipid–water interphase. Inherited defects in the gene encoding this glycoprotein result ina fatal neurological storage disorder, the AB variant of GM2-gangliosidosis. To elucidate the mode of action of this gly-coprotein cofactor, we synthesized the two photoaffinity labels [ 14 C]C3 -TPD-GM2 and [ 14 C]C7 -TPD-GM2. ...

14p dell39 03-04-2013 62 4   Download

Protein misfolding is recognized as an important pathophysiological cause of protein deficiency in many genetic disorders. Inherited mutations can disrupt native protein folding, thereby producing proteins with misfolded conformations.

10p media19 04-03-2013 24 2   Download

Hyperphenylalaninemia (Online Mendelian Inheritance in Mandatabase: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylal-aninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy.

12p viettel02 22-02-2013 37 4   Download

Fragile X mental retardation protein (FMRP) is an RNA binding protein necessary for correct spatiotemporal control of neuronal gene expression in humans. Lack of functional FMRP causes fragile X mental retardation, which is the most common inherited neurodevelopmental disorder in humans.

10p cosis54 05-01-2013 46 4   Download

Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by cortico-striatal dysfunction and loss of glutamate uptake. At 7 weeks of age, R6/2 mice, which model an aggressive form of juvenile HD, show a glutamate-uptake deficit in striatum that can be reversed by treatment with ceftriaxone, a b-lactam antibiotic that increases GLT1 expression. Only at advanced ages ( 11 weeks), however, do R6/2 mice show an actual loss of striatal GLT1. Here, we tested whether ceftriaxone can reverse the decline in GLT1 expression that occurs in older R6/2s.

5p toshiba23 18-11-2011 52 3   Download

Abstract Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in organs and damages them. Without treatment, the disease can cause these organs to fail. Tóm tắt Bệnh thặng dư sắt mô là một biến loạn di truyền làm cho cơ thể hấp thụ quá nhiều sắt hơn mức cần thiết. Nếu không được điều trị, lượng sắt tích tụ cao trong cơ thể có thể làm tổn hại những cơ quan thiết yếu và những khớp của cơ...

11p thiuyen111 11-04-2011 117 5   Download