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Galactokinase Deficiency
Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. The disorder is caused by mutations in the GALK1 gene, located on chromosome 17q24. Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism. Galactokinase deficiency is one of the three inborn errors of metabolism that lead to hypergalactosemia. The disorder is inherited as an autosomal recessive trait. Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utiliza ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactitol
Galactitol (dulcitol) is a sugar alcohol, the reduction product of galactose. It has a slightly sweet taste. In people with galactokinase deficiency, a form of galactosemia, excess dulcitol forms in the lens of the eye leading to cataracts. Galactitol is produced from galactose in a reaction catalyzed by aldose reductase. The other common galactose metabolism defect is a defect in galactose-1-phosphate uridylyltransferase, an autosomal recessive disorder An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ..., which also causes a buildup of galactitol as a result of increased concentrations of galactose-1-phosphate and galactose. This disorder leads to cataracts caused by galactitol buildup. References External links * {{Fructose and galactose metabolic intermediates Sugar alco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactose-1-phosphate Uridyltransferase Deficiency
Galactose-1-phosphate uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the specific metabolic error. Symptoms and signs In undiagnosed and untreated children, the ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosemia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosaemia is about one hundred times more common (1:480 births) in the Irish Traveller population. Symptoms Adults Infants Infant ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endoplasmic Reticulum
The endoplasmic reticulum (ER) is, in essence, the transportation system of the eukaryotic cell, and has many other important functions such as protein folding. It is a type of organelle made up of two subunits – rough endoplasmic reticulum (RER), and smooth endoplasmic reticulum (SER). The endoplasmic reticulum is found in most eukaryotic cells and forms an interconnected network of flattened, membrane-enclosed sacs known as cisternae (in the RER), and tubular structures in the SER. The membranes of the ER are continuous with the outer nuclear membrane. The endoplasmic reticulum is not found in red blood cells, or spermatozoa. The two types of ER share many of the same proteins and engage in certain common activities such as the synthesis of certain lipids and cholesterol. Different types of cells contain different ratios of the two types of ER depending on the activities of the cell. RER is found mainly toward the nucleus of cell and SER towards the cell membrane or pl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RACE PCR
Rapid amplification of cDNA ends (RACE) is a technique used in molecular biology to obtain the full length sequence of an RNA transcript found within a cell. RACE results in the production of a cDNA copy of the RNA sequence of interest, produced through reverse transcription, followed by PCR amplification of the cDNA copies (see RT-PCR). The amplified cDNA copies are then sequenced and, if long enough, should map to a unique genomic region. RACE is commonly followed up by cloning before sequencing of what was originally individual RNA molecules. A more high-throughput alternative which is useful for identification of novel transcript structures, is to sequence the RACE-products by next generation sequencing technologies. Process RACE can provide the sequence of an RNA transcript from a small known sequence within the transcript to the 5' end (5' RACE-PCR) or 3' end (3' RACE-PCR) of the RNA. This technique is sometimes called ''one-sided PCR'' or ''anchored PCR''. The first step i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RNA Polymerase II
RNA polymerase II (RNAP II and Pol II) is a multiprotein complex that transcribes DNA into precursors of messenger RNA (mRNA) and most small nuclear RNA (snRNA) and microRNA. It is one of the three RNAP enzymes found in the nucleus of eukaryotic cells. A 550 kDa complex of 12 subunits, RNAP II is the most studied type of RNA polymerase. A wide range of transcription factors are required for it to bind to upstream gene promoters and begin transcription. Discovery Early studies suggested a minimum of two RNAPs: one which synthesized rRNA in the nucleolus, and one which synthesized other RNA in the nucleoplasm, part of the nucleus but outside the nucleolus. In 1969, science experimentalists Robert Roeder and William Rutter definitively discovered an additional RNAP that was responsible for transcription of some kind of RNA in the nucleoplasm. The finding was obtained by the use of ion-exchange chromatography via DEAE coated Sephadex beads. The technique separated the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TATA-box
In molecular biology, the TATA box (also called the Goldberg–Hogness box) is a sequence of DNA found in the core promoter region of genes in archaea and eukaryotes. The bacterial homolog of the TATA box is called the Pribnow box which has a shorter consensus sequence. The TATA box is considered a non-coding DNA sequence (also known as a cis-regulatory element). It was termed the "TATA box" as it contains a consensus sequence characterized by repeating T and A base pairs. How the term "box" originated is unclear. In the 1980s, while investigating nucleotide sequences in mouse genome loci, the Hogness box sequence was found and "boxed in" at the -31 position. When consensus nucleotides and alternative ones were compared, homologous regions were "boxed" by the researchers. The boxing in of sequences sheds light on the origin of the term "box". The TATA box was first identified in 1978 as a component of eukaryotic promoters. Transcription is initiated at the TATA box in TA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sp1 Transcription Factor
Transcription factor Sp1, also known as specificity protein 1* is a protein that in humans is encoded by the SP1 gene. Function The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, ''O''-GlcNAcylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. In the SV40 virus, Sp1 binds to the GC boxes in the regulatory region (RR) of the genome. Structure SP1 belongs to the Sp/KLF family of transcription factors. The protein is 785 amino acids long, with a molecular weight of 81 kDa. The SP1 transcription factor contains two glutamine-rich activation domains at its N-terminus that are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Social Smile
Social organisms, including human(s), live collectively in interacting populations. This interaction is considered social whether they are aware of it or not, and whether the exchange is voluntary or not. Etymology The word "social" derives from the Latin word ''socii'' ("allies"). It is particularly derived from the Italian ''Socii'' states, historical allies of the Roman Republic (although they rebelled against Rome in the Social War of 91–87 BC). Social theorists In the view of Karl MarxMorrison, Ken. ''Marx, Durkheim, Weber. Formations of modern social thought'', human beings are intrinsically, necessarily and by definition social beings who, beyond being "gregarious creatures", cannot survive and meet their needs other than through social co-operation and association. Their social characteristics are therefore to a large extent an objectively given fact, stamped on them from birth and affirmed by socialization processes; and, according to Marx, in producing and reproducin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WebMD
WebMD is an American corporation known primarily as an online publisher of news and information pertaining to human health and well-being. The site includes information pertaining to drugs. It is one of the top healthcare websites. It was founded in 1998 by internet entrepreneur Jeff Arnold. In early 1999, it was part of a three way merger with Sapient Health Network (SHN) and Direct Medical Knowledge (DMK). SHN began in Portland, Oregon, in 1996 by Jim Kean, Bill Kelly, and Kris Nybakken, who worked together at a CD-ROM publishing firm, Creative Multimedia. Later in 1999, WebMD merged with Healtheon, founded by Netscape Communications founder James H. Clark. Traffic During March 2020, WebMD's network of websites reached more unique visitors each month than any other leading private or government healthcare website, making it the leading health publisher in the United States. In the fourth quarter of 2016, WebMD recorded an average of 179.5 million unique users per month ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EMedicine
eMedicine is an online clinical medical knowledge base founded in 1996 by doctors Scott Plantz and Jonathan Adler, and computer engineer Jeffrey Berezin. The eMedicine website consists of approximately 6,800 medical topic review articles, each of which is associated with a clinical subspecialty "textbook". The knowledge base includes over 25,000 clinically multimedia files. Each article is authored by board certified specialists in the subspecialty to which the article belongs and undergoes three levels of physician peer-review, plus review by a Doctor of Pharmacy. The article's authors are identified with their current faculty appointments. Each article is updated yearly, or more frequently as changes in practice occur, and the date is published on the article. eMedicine.com was sold to WebMD in January, 2006 and is available as the Medscape Reference. History Plantz, Adler and Berezin evolved the concept for eMedicine.com in 1996 and deployed the initial site via Boston Med ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
