PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122243 View Pathway	disease Aspartylglucosaminuria Homo sapiens Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase (normally present in the liver and brain as well as other tissues). This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzyme's function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs. Aspartylglucosaminuria is a genetic condition that is inherited from both parents. The AGU patient is born with two copies of the mutated AGA gene. One copy comes from the mother’s egg and the other copy comes from the father’s sperm. In order to develop aspartylglucosaminuria, the individual must inherit changes in both of his AGU genes (autonomic recessive inheritance). When a person receives one changed form of the gene AGU from one of the parents, the individual is then classified as a carrier [Wikipedia]. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: xuan cao Created On: October 01, 2018 at 11:15 Last Updated: October 01, 2018 at 11:15
PW127989 View Pathway	drug action Amifampridine Action Pathway Homo sapiens Amifampridine, also known as Firdapse, is a presynaptic voltage-gated potassium channel blocker. This drug is used to treat Lambert-Eaton myasthenic syndrome. LEMS is an auto-immune disorder of the neuromuscular junction that is characterized by proximal muscle weakness, depressed tendon reflexes, and posttetanic potentiation in addition to autonomic dysfunction. This drug blocks presynaptic fast voltage-gated potassium channels, which prolongs the action potential and increases presynaptic calcium concentrations while increasing the acetylcholine concentrations at the neuromuscular junction. Increased intracellular calcium enhances the exocytosis of acetylcholine-containing vesicles and enhances impulse transmission at the synapses. It is administered as an oral tablet. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Daphnee Created On: June 27, 2023 at 11:09 Last Updated: June 27, 2023 at 11:09
PW126978 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis 1636480163 1654322490 Hordeum vulgare BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: June 04, 2022 at 00:03 Last Updated: June 04, 2022 at 00:03
PW128016 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis 1636480163 1652153943 1688064066 Cannabis sativa BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: June 29, 2023 at 12:41 Last Updated: June 29, 2023 at 12:41
PW126990 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis 1636480163 1652153943 1654630630 Cannabis sativa BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: June 07, 2022 at 13:37 Last Updated: June 07, 2022 at 13:37
PW126908 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis 1636480163 1652153943 Cannabis sativa BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: May 09, 2022 at 21:38 Last Updated: May 09, 2022 at 21:38
PW124592 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis Cannabis sativa BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Eponine Oler Created On: March 19, 2021 at 13:05 Last Updated: March 19, 2021 at 13:05
PW124158 View Pathway	metabolic Ubiquinone and other terpenoid-quinone biosynthesis Arabidopsis thaliana BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Dorsa Yahya Rayat Created On: September 13, 2020 at 14:37 Last Updated: September 13, 2020 at 14:37
PW126404 View Pathway	drug action COX Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: November 09, 2021 at 10:49 Last Updated: November 09, 2021 at 10:49