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  • Enzymes
  • These sulfatase enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. (wikipedia.org)
  • People with these disorders either do not produce enough of one of the enzymes needed to metabolize and break down lipids or they produce enzymes that do not work properly. (wikipedia.org)
  • These include enzymes called ceramide-activated Ser-Thr phosphatases (CAPPs), such as protein phosphatase 1 and 2A (PP1 and PP2A), which were found to interact with ceramide in studies done in a controlled environment outside of a living organism (in vitro). (wikipedia.org)
  • On the other hand, studies in cells have shown that ceramide-inducing agents such as tumor necrosis factor-alpha α (TNFα) and palmitate induce the ceramide-dependent removal of a phosphate group (dephosphorylation) of the retinoblastoma gene product RB and the enzymes, protein kinases B (AKT protein family) and C α (PKB and PKCα). (wikipedia.org)
  • Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. (wikipedia.org)
  • The difference in the codons has the consequence of inhibiting two enzymes located in the lysosomes of the neurons of the central nervous system. (wikipedia.org)
  • Lysosomes contain various enzymes to break down byproducts and toxins to ensure they do not accumulate enough to interfere with the function of the central nervous system. (wikipedia.org)
  • Gene
  • citation needed] Multiple sulfatase deficiency is thought to be caused by any mutation of the SUMF1 gene which would render its protein product, the formylglycine-generating enzyme (FGE), defective. (wikipedia.org)
  • Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16. (wikipedia.org)
  • In the present review, snapshots about the benefits of proteins or gene therapy, general procedures for therapeutic protein or gene delivery system, and different next generation delivery system such as liposome, PEGylation, HESylation, and nanoparticle based delivery have been depicted with their detailed explanation. (hindawi.com)
  • Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. (wikipedia.org)
  • Each child born to these parents have a 25 percent chance of inheriting both copies of the defective gene, a 50 percent chance of being a carrier, and a 25 percent chance of not inheriting either copy of the defective gene. (wikipedia.org)
  • Furthermore, gene thereapies and bone marrow transplantation may prove to be effective for certain lipid storage disorders. (wikipedia.org)
  • Mutations in the SMPD1 gene cause Niemann-Pick disease types A and B. They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase, that breaks down the lipid sphingomyelin. (wikipedia.org)
  • Most often, the parents of a child with an autosomal recessive disorder are carriers: they have one copy of the altered gene, but are not affected because the other copy produces the enzyme. (wikipedia.org)
  • PCSK9 gene expression can be regulated by sterol-response element binding proteins (SREBP-1/2), which also controls LDLR expression. (wikipedia.org)
  • The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
  • Individuals who have only one defective gene are known as carriers, meaning they do not develop the disease, but they can pass the gene on to their own children. (wikipedia.org)
  • As a result, there are no unaffected carriers of the gene. (wikipedia.org)
  • Phospholipase D3, also known as PLD3, is a protein that in humans is encoded by the PLD3 gene. (wikipedia.org)
  • PLD3 was first characterized as a human homolog of the HindIII K4L protein in the vaccinia virus, having a DNA sequence 48.1% similar to the viral gene. (wikipedia.org)
  • metal nanoparticles
  • Currently nanoassemblies such as polymeric/solid lipid/inorganic/metal nanoparticles, quantum dots, dendrimers, liposomes, micelles has emerged as an innovative, effective, and promising platforms for treatment of drug resistant cancer cells. (frontiersin.org)
  • Mitochondria
  • Two studies identified Vam6/Vps39, a component of the HOPS (homotypic fusion and vacuole protein sorting) vacuolar fusion complex, as a mediator of mitochondria-vacuole tethering. (rupress.org)
  • T or F: Peroxisomes, like MITOCHONDRIA, can import fully folded proteins or protein complexes. (brainscape.com)
  • intracellular
  • Potential factors for MDR includes enhanced drug detoxification, decreased drug uptake, increased intracellular nucleophiles levels, enhanced repair of drug induced DNA damage, overexpression of drug transporter such as P-glycoprotein(P-gp), multidrug resistance-associated proteins (MRP1, MRP2), and breast cancer resistance protein (BCRP). (frontiersin.org)
  • nucleus
  • These subunits are then shipped out of the nucleus into the cytoplasm where proteins can be synthesized and the functional ribosomes can attach to the rough ER. (humpath.com)
  • Clathrin
  • This is an adaptor protein which helps the formation of a clathrin coat around a vesicle. (wikipedia.org)
  • Adaptins recognise and bind to clathrin through their hinge region (clathrin box), and recruit accessory proteins that modulate AP function through their C-terminal ear (appendage) domains. (wikipedia.org)
  • AP-5 is associated with 2 proteins, SPG11 and SPG15, which have some structural similarity to clathrin, and may form the coat around the AP-5 complex, but the ultrastructure of that coat is not known. (wikipedia.org)
  • raft
  • Indeed, lipid raft size has been estimated to be around 20 nm 6 , far under the resolution limit of conventional microscopy (around 200 nm), thus precluding their direct imaging. (jove.com)
  • FCS can be used to determine the lipid raft partitioning of various probes, as long as they are fluorescently tagged. (jove.com)
  • flux
  • Previous studies revealed that endolysosomal trafficking is intimately related to interorganelle communication and lipid flux. (rupress.org)
  • genetic
  • Tay-Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. (wikipedia.org)
  • Genetic counseling and genetic testing are recommended for families who may be carriers of Niemann-Pick. (wikipedia.org)