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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as the congenital disorder of glycosylation PMM2 deficiency .
Charles de Gaulle Airport has three terminals: Terminal 1 is the oldest and situated opposite to Terminal 3; Terminal 2 is located at another side with 7 sub-terminal buildings (2A to 2G). Terminal 2 was originally built exclusively for Air France ; [ 9 ] since then it has been expanded significantly and now houses other airlines.
The RER B commuter line is a heavy-rail service to the Parisian region. CDGVAL connects Terminal 1 passengers from the stop at RER B stop at Terminal 3. Terminal 2 has an RER-B platform directly underneath it; this station also handles the high-speed TGV, and Eurostar.
Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene. [ 5 ] [ 6 ] [ 7 ] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis.
Whether you're an athlete looking to make gains in the gym or someone looking to lose weight, tracking your body composition can be an asset, say experts.
Paris Orly Airport (French: Aéroport de Paris-Orly, pronounced [aeʁɔpɔʁ də paʁi ɔʁli]) (IATA: ORY, ICAO: LFPO) is one of two international airports serving Paris, France, the other one being Charles de Gaulle Airport (CDG). It is located partially in Orly and partially in Villeneuve-le-Roi, 13 km (8.1 mi) south [2] of Paris ...