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Items: 9

1.

Proteasome Binding

Proteasome Binding involves temporary non-covalent interaction through intermolecular physical forces of attraction with multicatalytic macromolecular cellular structures in the cytosol and nucleus with multiple proteolytic activities involved in ATP-dependent ubiquitinated protein degradation and antigen processing. [from NCI]

MedGen UID:
271029
Concept ID:
C1514525
Molecular Function
2.

Protein Turnover

The normal "downside" of protein steady state metabolism in cells, involving conjugation, transport, oxidation, and proteolysis; not to be confuse with proteolysis, which applies only to peptide bond hydrolysis. [from NCI]

MedGen UID:
109307
Concept ID:
C0597297
Molecular Function
3.

Glucocorticoid deficiency with achalasia

Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. [from GTR]

MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
4.

Familial abdominal aortic aneurysm 1

An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. [from MeSH]

MedGen UID:
56524
Concept ID:
C0162871
Disease or Syndrome
5.

Striadyne

MedGen UID:
196163
Concept ID:
C0701945
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
6.

Atriphos

MedGen UID:
148792
Concept ID:
C0701946
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
7.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
8.

Adenosine triphosphate

An adenine nucleotide comprised of three phosphate groups esterified to the sugar moiety, found in all living cells. Adenosine triphosphate is involved in energy production for metabolic processes and RNA synthesis. In addition, this substance acts as a neurotransmitter. In cancer studies, adenosine triphosphate is synthesized to examine its use to decrease weight loss and improve muscle strength. [from NCI]

MedGen UID:
133
Concept ID:
C0001480
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
9.

Nucleotides, Adenine

condensation product of adenosine and phosphoric acid; a nucleotide found among the hydrolysis products of all nucleic acids. [from CRISP]

MedGen UID:
120
Concept ID:
C0001413
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
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