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I-cell disease is associated with various clinical features that affect physical appearance, organ function, and growth development. The severity of these symptoms varies between individuals, though the prognosis is poor due to the disease’s systemic nature. I-Cell Disease patients may also experience impaired cognitive and motor development.
I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.
1.2 Biochemistry and cell biology. 1.3 Other. ... (causes) of mental diseases like psychotic disorders ... Why do these simple unsegmented annelids, ...
The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45 ) on the first chromosome (1q22). The enzyme is a 55.6- kilodalton , 497- amino acid -long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells .
This is to ensure that each daughter cell gets a copy of every gene. However, organelle genes in heteroplasmic cells can segregate because they each have several copies of their genome. This may result in daughter cells with differential proportions of organelle genotypes. [8] Mendel states that nuclear alleles always segregate during meiosis.
Bacteria have microcompartments, quasi-organelles enclosed in protein shells such as encapsulin protein cages, [4] [5] while both bacteria and some archaea have gas vesicles. [6] Prokaryotes have simple cell skeletons. These are highly diverse, and contain homologues of the eukaryote proteins actin and tubulin. The cytoskeleton provides the ...
Apoptosis is the programmed cell death of superfluous or potentially harmful cells in the body. It is an energy-dependent process mediated by proteolytic enzymes called caspases, which trigger cell death through the cleaving of specific proteins in the cytoplasm and nucleus. [13] The dying cells shrink and condense into apoptotic bodies.