Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is a congenital autosomal recessive disorder characterized by accumulation of...
16 KB (1,998 words) - 15:40, 12 December 2024
Jordans' anomaly (category Lipid storage disorders)
with neutral lipid storage diseases. Jordans' anomaly is a characteristic finding in Chanarin-Dorfman syndrome and other neutral lipid storage diseases. The...
7 KB (567 words) - 15:20, 12 December 2024
Defects in ATGL can cause problems in lipolysis, leading to neutral lipid storage disease. As triacylglycerols are not hydrolysed to diacylglycerols,...
16 KB (1,825 words) - 01:06, 9 May 2024
and placement are variable. Individuals with neutral lipid storage disease may exhibit persistent lipid-filled vacuoles in neutrophils and other granulocytes...
6 KB (515 words) - 17:22, 27 September 2023
Ichthyosis (category Rare diseases)
Ichthyosis (also named fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of...
15 KB (1,023 words) - 02:36, 1 January 2025
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...
10 KB (1,038 words) - 17:48, 6 November 2024
Lipid droplets, also referred to as lipid bodies, oil bodies or adiposomes, are lipid-rich cellular organelles that regulate the storage and hydrolysis...
21 KB (2,688 words) - 21:08, 10 January 2025
Sweat gland (redirect from Sweat gland diseases)
places). Neutral lipid storage disease includes abnormal lipid deposits in cells, including those of the sweat gland. Niemann-Pick disease type C, another...
44 KB (4,611 words) - 15:27, 2 November 2024
Tay–Sachs and other lipid storage diseases. In the United States, about 1 in 27 to 1 in 30 Ashkenazi Jews is a recessive carrier. The disease incidence is about...
57 KB (6,437 words) - 16:11, 14 December 2024
List of skin conditions (redirect from Sweat gland disease)
Recklinghausen's disease) Neurofibromatosis type 3 (neurofibromatosis mixed type) Neurofibromatosis type 4 (neurofibromatosis variant type) Neutral lipid storage disease...
198 KB (17,971 words) - 12:13, 2 December 2024
to imbalance in energy consumption and its combustion, resulting in lipid storage, or can be a consequence of peripheral resistance to insulin, whereby...
39 KB (3,890 words) - 05:53, 30 December 2024
Perilipin-1 (redirect from Lipid droplet-associated protein)
lipolysis by the two lipases. Perilipin is an important regulator of lipid storage. Both an overexpression or deficiency of the protein, caused by a mutation...
29 KB (3,315 words) - 02:05, 3 December 2023
encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy". Nat. Genet. 39 (1): 28–30. doi:10.1038/ng1951...
14 KB (1,058 words) - 04:57, 21 February 2024
Myoclonus (redirect from Van Leeuwenhoek's disease)
injury, stroke, stress, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, as a side effect of certain drugs (such...
28 KB (3,571 words) - 04:53, 21 January 2025
along with phospholipids and is involved in assisting the storage of neutral lipids within the lipid droplets. The adipose differentiation related protein...
18 KB (2,258 words) - 22:26, 27 March 2024
hereditary sensory, type II Neurosyphilis Neurotoxicity syndromes Neutral lipid storage myopathy Neutropenia intermittent Neutropenia monocytopenia deafness...
8 KB (654 words) - 05:37, 10 November 2024
Apolipoprotein E (category Alzheimer's disease)
determines function, from atherosclerosis to Alzheimer's disease to AIDS". Journal of Lipid Research. 50 (Suppl): S183–S188. doi:10.1194/jlr.R800069-JLR200...
60 KB (6,703 words) - 21:02, 17 December 2024
Sphingomyelin phosphodiesterase (redirect from Neutral sphingomyelinase)
Neutral sphingomyelinase (N-SMase) activity was first described in fibroblasts from patients with Niemann-Pick disease – a lysosomal storage disease characterized...
13 KB (1,553 words) - 06:31, 3 November 2024
Hilpda (redirect from Hypoxia inducible lipid droplet-associated)
endoplasmic reticulum and around lipid droplets. Gain and loss-of-function studies have shown that HILPDA promotes fat storage in cancer cells, macrophages...
6 KB (771 words) - 18:55, 7 April 2024
conditions: Glycogen storage disease (versus other storage disorders). Adenocarcinomas, which often secrete neutral mucins. Paget disease of the breast. Alveolar...
6 KB (632 words) - 18:03, 15 November 2024
Lipotoxicity (category Lipids)
types of lipids for storage. Triacylglycerol consists of three fatty acids bound to a glycerol molecule and is considered the most neutral and harmless...
12 KB (1,458 words) - 17:24, 23 July 2024
functional hexosaminidase enzymes are the cause of lipid storage disorders Tay-Sachs disease and Sandhoff disease. Functional lysosomal β-hexosaminidase enzymes...
16 KB (1,464 words) - 17:02, 27 September 2023
Fatty acid (redirect from Lipid name)
of healthy volunteers". Lipids in Health and Disease. 2: 10. doi:10.1186/1476-511X-2-10. PMC 317357. PMID 14622442. "IUPAC Lipid nomenclature: Appendix...
54 KB (5,012 words) - 23:01, 6 January 2025
Pulmonary surfactant (section Lipids)
that fluidize the lipid monolayer at the interface. Neutral lipids and cholesterol are also present. The components for these lipids diffuse from the blood...
23 KB (2,662 words) - 16:26, 6 January 2025
contributions to the mechanisms of cellular lipid synthesis and storage, cloning the genes for many enzymes of neutral lipid synthesis, including ACAT, DGAT, and...
10 KB (1,065 words) - 18:44, 24 November 2024
primarily of phospholipids (80%), in addition to proteins (12%) and neutral lipids (8%). Among the phospholipids, the most prevalent one is phosphatidylcholine...
19 KB (2,207 words) - 21:10, 19 May 2024
of heart disease. Cashew oil and other nut-based oils do not present a danger to persons with a nut allergy, because oils are primarily lipids, and allergic...
32 KB (4,751 words) - 07:44, 17 December 2024
PMID 17495960. Fischer J, Negre-Salvayre A, Salvayre R (2007). "[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta...
7 KB (934 words) - 00:53, 1 December 2023
FITM2 (section Lipid droplets (LDs))
surrounds the core of the lipid (neutral). It is then able to obtain interchangeable proteins that are associated with lipid droplets in the cytosol. Studies...
14 KB (1,797 words) - 04:00, 7 April 2022
Cholesterol (category Lipid disorders)
Farkas, J (September 1974). "Regulation of cholesterol storage in adipose tissue". Journal of Lipid Research. 15 (5): 491–9. doi:10.1016/S0022-2275(20)36769-9...
81 KB (8,701 words) - 02:06, 20 January 2025