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Loss of the translational repressor FMRP causes Fragile X syndrome

Using large-scale mass spectrometers located at EMSL, scientists discovered how blue-green algae use proteins and how they respond to varying natural conditions. Blue-green algae are responsible for nearly half of the photosynthesis necessary for sustaining life on earth and can be used to create renewable, carbon-neutral biofuels

Copper metalloenzymes and proteinsa Enzyme Function Amino acid oxidase amino acid metabolism Ascorbate oxidase terminal oxidase in plants Azurin electron transfer Benzylamine oxidase oxidation of amines Ceramide galactosyl transferase myelin synthesis Ceruloplasmin copper transport, oxidation Cytochrome c oxidase terminal oxidase in animals Diamine oxidase amine metabolism Dopamine-ß-hydroxylase norepinephrine (noradrenalin) synthesis Galactose oxidase carbohydrate metabolism Haemerythrin oxygen transport Haemocyanin oxygen transport Indole 2,3-dioxygenase amine metabolism Laccase terminal oxidase, plants Lysyl oxidase collagen, elastin cross-linking Plastocyanin electron transfer in plants Polyphenyl oxidase quinone biosynthesis Prostaglandin reductase prostaglandin biosynthesis Rusticyanin electron transfer in fungi Stellacyanin electron transfer in fungi Superoxide dismutase superoxide radical destruction, dismutation Tyrosinase amino acid metabolism, pigment formation Uricase nucleic acid metabolism Spermine oxidase amine metabolism Tryptophan 2,3-dioxygenase amino acid metabolism Monoamine oxidasea neurotransmitter synthesis a Linder & Hazegh-Azam (1996) 6.2.1 Cellular basis of homoeostasis An interpretation of the intracellular homoeostasis of copper in an human hepatocyte (the pathway and regulation of the importation, utilization, detoxification and export of copper) is illustrated in Fig.

09/01/2010 · The break down of protein synthesis in Fragile X ..

Breakdown of protein synthesis in fragile x : …

FMR1 (fragile X mental retardation 1) ..

The full-length cDNA sequence of the WND gene (Bull et al., 1993; Tanzi et al., 1993) predicts a protein of 1411 amino acids which is a member of the cation-transporting P-type ATPase subfamily, highly homologous to the Menkes disease gene product and the copper-transporting ATPase (CopA) found in copper-resistant strains of Enterococcus hirae. From sequence analysis of the cDNA, the WND protein is predicted to possess a metal-binding domain (containing five specific binding sites), an ATP-binding domain, a cation channel and phosphorylation region, and a transduction domain responsible for the conversion of the energy of ATP hydrolysis to cation transport.

Working backwards from a particular alcohol and determining what Grignard reagent you would need to synthesize it. The synthesis of 2,4,5-T is similar to that for 2,4-D and MCPA.

Protein Synthesis in the Brain of Patients With Fragile X Syndrome


Defects in Enzymes

Lysosomal Storage Diseases
Lysosomal enzymes catalyze the breakdown of complex macromolecules.
Autophagy: breakdown of intracellular organelles
Heterophagy: phagocytosis
Synthesis of a catalytcally inactive enzyme but that cross-reacts with immunoassays so normal levels of enzyme are detected.
Defects in post-translational processing of the enzymes (e.g. addition of mannose-6-phosphate "marker": enzyme secreted instead of ending in lysosome)
Lack of an enzyme activator or protector protein
Lack of a substrate activator protein
Lack of a transport protein required for egress of digested material out of lysosome



,
Long-chain complex proteoglycans abundant in ground substance of connective tissue. All except Hunter's are AR. Progressive disorders characterized by involvement of multiple organs including liver, spleen, heart and blood vessels. Most associated with coarse facial features, clouding of the cornea, joint stiffness and mental retardation, HSM, skeletal deformities, valvular lesions and subendothelial arterial deposits, particularly in coronary arteries. MI impt cause of death.

Glycogenoses:
Hereditary deficiency of one of the enzymes involved in the synthesis or degradation of glycogen.
Hepatic forms:
Myopathic forms: , muscle phosphofructokinase (Type VII)
Deficiency of a-glucosidase (acid maltase):
Brancher glycogenosis: (Type IV) lack of branching enzyme with widespread deposition of abnormal glycogen in brain, heart, skeletal muscle and liver.


Defects in Proteins that Regulate Cell Growth


Multifactorial Inheritance

Hair color, eye color, skin color, height and intelligence.
Diabetes Mellitus, obesity, cleft lip or palate, congenital heart disease, coronary heart disease, hypertension, gout, pyloric stenosis.
The risk of inheriting a multifactorial disorder is greater in sibs of pts. having severe expression of the disorder.
Concordance for identical twins is 20-40%
If one child is affected, 7% risk for next child; if two, 9%.

Normal Karyotype
46 chromosomes. 46,XX female; 46,XY male.
Arrest mitosis in metaphase with colchicine and stain chromosomes. Giemsa stain: G banding. Resolution improved by getting cells in prophase.
p: short arm (petit); q: long arm.
Regions numbered 1,2,3 from centromere outward.
Limits to karyotyping: applicable only to cells that are dividing.
FISH: flouresence labelled probes recognize chromosome-specific sequences, or demonstarte subtle microdeletions.
Euploid. . any exact multiple of haploid.
Aneuploid . chromosome # is not an exact multiple of 23.
Nondisjunction def. homologous pairs of chromosomes fail to disjoin at first meiotic division or the two chromatids fail to separate at either the second meiotic division or at somatic mitotic divisions. This results in two aneuploid cells.
Anaphase lag def. one homologous chromosome is left behind and is excluded from cell nucleus in meiosis or mitosis. This results in one normal cell and in one cell with monosomy.
Mosaicism def. two or more populations of cells in the same individual.
Mosaicism affected the sex chromosomes is fairly common. e.g. 45X/47,XXX mosaic (phenotype: )
Chromosomal breakage: structural change in chromosomes followed by loss or rearrangement of material:
(e.g. , , )

The synthesis of a protein such as FMRP (Fragile X ..

In brief, these involve experimental determination of equilibrium gill metal burden after exposure of the fish (3 h) to environmentally relevant levels of the metal in the presence of various concentrations of natural and/or synthetic ligands with known metal-binding constants.

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The fragile x mental retardation protein and group i ..


such as fragile X mental retardation protein ..



50% of spontaneous abortions during early gestation have a demonstrable chromosomal abnormality.
Hereditary, by definition, means familial. Congenital means "born with" and may not be genetic (e.g. congenital syphilis).
Mutation permanent change in DNA.
Genome mutations loss or gain of whole chromosomes.
Chromosome mutations. give rise to visible structural changes in the chromosomes.
Gene mutations partial or complete deletion of a gene.
Point mutations within a coding sequence: missense (alter meaning of code), nonsense (stop codon)
Point mutations within noncoding sequences: may interfere with transcription factor binding, promoter sequences or lead to defective splicing.
Deletions and Insertions: frameshift mutations.
Trinucleotide repeat mutations: e.g. Fragile X gene FMR-1, normally 29 CGG, abnormal 250-400! Amplification during gametogenesis.

Mendelian Disorders expressed mutations in single genes of large effect:
It is estimated that each individual carries 5-8 deleterous genes, but most are recessive so have no effect. 80-85% familial.
Codominance both alleles of a gene pair are fully expressed. e.g. histocompatibility or blood group antigens.
Pleiotropism a single, mutant gene may lead to many end effects. e.g. Sickle cell anemia.
Genetic heterogeneity mutations at many different loci may produce the same trait. e.g. childhood deafness.
Enzyme defects: leads to accumulation of a substrate (lysosomal storage disorders), decreased end product (lack of tyrosinase leads to melanin deficiency & albinism), failure to inactivate a tissue damaging substrate (1-AT deficiency)
Membrane receptors and transport systems
Non-enzyme proteins: structure, function or quantity (e.g. globin genes)
Mutations resulting in unusual drug reactions (G6PD deficiency)

Autosomal Dominant Disorders
Some patients do not have affected parents - new mutations involving egg or sperm.
Some inherit the mutant gene but are normal - reduced penetrance/variable expressivity.
In many conditions age at onset is delayed.
AD disorders usually involve:
Nonenzymatic proteins involved in regulation of complex metabolic pathways that are subject to feedback inhibition e.g. LDL receptors
Key structural proteins e.g. collagen
Rare gain of function mutations e.g. Huntington's Disease trinucleotide repeat mutation leads to an abnormal protein which is toxic to neurons.

Autosomal Recessive Disorders
One chance in four of being affected.
Expression of the defect tends to be more uniform.
Complete penetrance is common.
Onset frequently early in life.
Enzyme proteins are often affected by a loss of function. e.g. all inborn errors of metabolism.

X Linked Disorders
All sex-linked disorders are X linked and almost all are recessive.
Male is said to be hemizygous.
All daughters are carriers.
Heterozygous female expresses the disorder partially. e.g. G6PD deficiency
X linked dominant are rare e.g. Vitamin D-resistant rickets.

Defects in Structural Proteins

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