scholarly journals Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia

2016 ◽  
Vol 10 (4) ◽  
pp. 816-823 ◽  
Author(s):  
Piero Pingitore ◽  
Saverio Massimo Lepore ◽  
Carlo Pirazzi ◽  
Rosellina Margherita Mancina ◽  
Benedetta Maria Motta ◽  
...  
Keyword(s):  
Type I ◽  
Novel Mutations ◽  
Lpl Gene ◽  
Identification And Characterization

scholarly journals Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia

2016 ◽  
Vol 252 ◽  
pp. e73-e74
Author(s):  
P. Pingitore ◽  
S.M. Lepore ◽  
C. Pirazzi ◽  
R.M. Mancina ◽  
B.M. Motta ◽  
...  
Keyword(s):  
Type I ◽  
Novel Mutations ◽  
Lpl Gene ◽  
Identification And Characterization

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

2016 ◽  
Vol 90 (6) ◽  
pp. 496-508 ◽  
Author(s):  
A. Uttarilli ◽  
P. Ranganath ◽  
D. Matta ◽  
J. Md Nurul Jain ◽  
K. Prasad ◽  
...  
Keyword(s):  
Type I ◽  
Type Ii ◽  
Pathogenic Variants ◽  
Indian Patients ◽  
Identification And Characterization

scholarly journals Identification and Characterization of the Asperthecin Gene Cluster of Aspergillus nidulans

2008 ◽  
Vol 74 (24) ◽  
pp. 7607-7612 ◽  
Author(s):  
Edyta Szewczyk ◽  
Yi-Ming Chiang ◽  
C. Elizabeth Oakley ◽  
Ashley D. Davidson ◽  
Clay C. C. Wang ◽  
...  
Keyword(s):  
Secondary Metabolite ◽  
Polyketide Synthase ◽  
Gene Clusters ◽  
Laboratory Culture ◽  
Culture Conditions ◽  
Type I ◽  
Genes Encoding ◽  
Identification And Characterization ◽  
Normal Laboratory

ABSTRACT The sequencing of Aspergillus genomes has revealed that the products of a large number of secondary metabolism pathways have not yet been identified. This is probably because many secondary metabolite gene clusters are not expressed under normal laboratory culture conditions. It is, therefore, important to discover conditions or regulatory factors that can induce the expression of these genes. We report that the deletion of sumO, the gene that encodes the small ubiquitin-like protein SUMO in A. nidulans, caused a dramatic increase in the production of the secondary metabolite asperthecin and a decrease in the synthesis of austinol/dehydroaustinol and sterigmatocystin. The overproduction of asperthecin in the sumO deletion mutant has allowed us, through a series of targeted deletions, to identify the genes required for asperthecin synthesis. The asperthecin biosynthesis genes are clustered and include genes encoding an iterative type I polyketide synthase, a hydrolase, and a monooxygenase. The identification of these genes allows us to propose a biosynthetic pathway for asperthecin.

Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man

2001 ◽  
Vol 108 (6) ◽  
pp. 459-466 ◽  
Author(s):  
Hirokazu Kashiwagi ◽  
Yoshiaki Tomiyama ◽  
Shuichi Nozaki ◽  
Teruo Kiyoi ◽  
Seiji Tadokoro ◽  
...  
Keyword(s):  
Type I ◽  
Biological Characterization ◽  
Novel Mutations ◽  
Cd36 Deficiency ◽  
Genetic Abnormalities

scholarly journals Analyses of Extracellular Carbohydrates in Oomycetes Unveil the Existence of Three Different Cell Wall Types

2012 ◽  
Vol 12 (2) ◽  
pp. 194-203 ◽  
Author(s):  
Hugo Mélida ◽  
Jose V. Sandoval-Sierra ◽  
Javier Diéguez-Uribeondo ◽  
Vincent Bulone
Keyword(s):  
Cell Wall ◽  
Type I ◽  
Cellulose Content ◽  
Animal Pathogens ◽  
A Cell ◽  
Cross Links ◽  
Taxonomic Grouping ◽  
Architectural Models ◽  
Identification And Characterization

ABSTRACT Some of the most devastating plant and animal pathogens belong to the oomycete class. The cell walls of these microorganisms represent an excellent target for disease control, but their carbohydrate composition is elusive. We have undertaken a detailed cell wall analysis in 10 species from 2 major oomycete orders, the Peronosporales and the Saprolegniales, thereby unveiling the existence of 3 clearly different cell wall types: type I is devoid of N -acetylglucosamine (GlcNAc) but contains glucuronic acid and mannose; type II contains up to 5% GlcNAc and residues indicative of cross-links between cellulose and 1,3-β-glucans; type III is characterized by the highest GlcNAc content (>5%) and the occurrence of unusual carbohydrates that consist of 1,6-linked GlcNAc residues. These 3 cell wall types are also distinguishable by their cellulose content and the fine structure of their 1,3-β-glucans. We propose a cell wall paradigm for oomycetes that can serve as a basis for the establishment of cell wall architectural models and the further identification of cell wall subtypes. This paradigm is complementary to morphological and molecular criteria for taxonomic grouping and provides useful information for unraveling poorly understood cell wall carbohydrate biosynthetic pathways through the identification and characterization of the corresponding enzymes.

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