An overview of inborn errors of complex lipid biosynthesis and remodelling

2014 ◽  
Vol 38 (1) ◽  
pp. 3-18 ◽  
Author(s):  
Foudil Lamari ◽  
Fanny Mochel ◽  
Jean-Marie Saudubray
Keyword(s):  
Lipid Biosynthesis ◽  
Inborn Errors ◽  
Complex Lipid

The Mycobacterium tuberculosis PhoPR two-component system regulates genes essential for virulence and complex lipid biosynthesis

2006 ◽  
Vol 60 (2) ◽  
pp. 312-330 ◽  
Author(s):  
Shaun B. Walters ◽  
Eugenie Dubnau ◽  
Irina Kolesnikova ◽  
Francoise Laval ◽  
Mamadou Daffe ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Lipid Biosynthesis ◽  
Two Component System ◽  
Component System ◽  
Two Component ◽  
Complex Lipid

scholarly journals Alteration of Soybean Complex Lipid Biosynthesis by S-Ethyl Dipropylthiocarbamate

1977 ◽  
Vol 60 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Robert E. Wilkinson ◽  
Albert E. Smith ◽  
Burlyn Michel
Keyword(s):  
Lipid Biosynthesis ◽  
Complex Lipid

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

Fine Structure of Type IV Glycogenosis

1981 ◽  
Vol 39 ◽  
pp. 464-465
Author(s):  
P.K. Simons
Keyword(s):  
Needle Biopsy ◽  
Tissue Concentration ◽  
Inborn Errors ◽  
Rare Type ◽  
Type Iv ◽  
Iron Copper ◽  
Proper Diagnosis ◽  
Type Iv Glycogenosis ◽  
Loss Of Appetite ◽  
Enzymatic Defect

Glycogenosis is defined as any condition in which the tissue concentration of glycogen is increased. There are currently ten recognized variants of glycogenosis that are heritable inborn errors of metabolism. The specific enzymatic defect in each of the variants is known or at least suspected. In all cases, the enzymatic defect prevents the proper metabolism or formation of the glycogen molecule. The clinical and histologic differences between the types of glycogenosis is important to a proper diagnosis after the presence of such a condition is realized. This study was initiated to examine the ultrastructure of the rare Type IV Glycogenosis (Amylopectinosis) of which there is very little morphologic characterization in the literature.Liver tissue was obtained by needle biopsy from a 12-month-old Oriental female who was originally admitted to the hospital after observation of poor development, loss of appetite, and hepatomegaly. The majority of the tissue was fixed for light microscopy in neutral buffered formalin and processed using routine and special staining procedures (reticulin, trichrome, iron, copper, PAS, PAS-diastase and PAS-pectinase.

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