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Τι (ποιος) είναι I cell disease - ορισμός

HUMAN DISEASE

Mucolipidosis II; Inclusion-cell disease; Inclusion cell disease; Inclusion-Cell Disease; Mucolipidosis Ii; ML II; I cell disease; I Cell disease; I Cell Disease

I-cell disease

Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.

https://en.wikipedia.org/wiki/I-cell_disease

Sickle Cell Anemia, a Molecular Disease

SCIENTIFIC ARTICLE

User:Ragesoss/Sickle Cell Anemia, a Molecular Disease

"Sickle Cell Anemia, a Molecular Disease" is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J.

https://en.wikipedia.org/wiki/Sickle_Cell_Anemia,_a_Molecular_Disease

Glycogen storage disease type I

RARE DISEASE

Von Gierke's Disease; Von Gierke disease; Glucose-6-phosphatase deficiency; Von Gierke's disease; GSD type I; Glycogen storage disease type 1B; Glycogen storage disease type i; Gierke's disease; Von Gierke Disease; GSD I; Hepato-renal glycogenesis; Glerke's disease; Glycogen storage disease type 1b; Glycogen storage disease type 1C; Type 1 glycogen storage disease; Von gierke; Von gierke disease; Von Gierke's syndrome

Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable to properly break down stored glycogen. This impairment disrupts the liver's ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels.

https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I

Βικιπαίδεια

I-cell disease

Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins. Mannose-6-phosphate serves as a marker for proteins to be targeted to lysosomes within the cell. Without this marker, proteins are instead secreted outside the cell, which is the default pathway for proteins moving through the Golgi apparatus. Lysosomes cannot function without these proteins, which function as catabolic enzymes for the normal breakdown of substances (e.g. oligosaccharides, lipids, and glycosaminoglycans) in various tissues throughout the body (i.e. fibroblasts). As a result, a buildup of these substances occurs within lysosomes because they cannot be degraded, resulting in the characteristic I-cells, or "inclusion cells" seen microscopically. In addition, the defective lysosomal enzymes normally found only within lysosomes are instead found in high concentrations in the blood, but they remain inactive at blood pH (around 7.4) because they require the low lysosomal pH 5 to function.

https://en.wikipedia.org/wiki/I-cell disease