Results 51 to 60 of about 1,211 (133)
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation [PDF]
, 2017 The conserved oligomeric Golgi (COG) complex is a tethering factor composed of eight subunits that is involved in the retrograde transport of intra-Golgi components. Deficient biosynthesis of COG subunits leads to alterations of protein trafficking along
Baumgartner, Matthias +7 more
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Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG [PDF]
, 2019 Contains fulltext : 208143.pdf (publisher's version ) (Open ...
Alsady, Mohammad +10 more
core +1 more source
Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley +1 more source
iMeta, Volume 4, Issue 1, February 2025.The concept of “gut–X axis”: the intestine and intestinal microbiota are proven to be able to modulate the pathophysiologic progressions of the extraintestinal organs' diseases. The bioactive chemicals and/or intestinal immune cells can translocate into the circulatory system and other organs and influence the immune reactions, metabolic status, cells ...
Xu Lin +24 more
wiley +1 more source
Genetic counseling for congenital disorders of glycosylation (CDG)
Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel +2 more
wiley +1 more source
Modeling autosomal recessive cutis laxa type 1C in mice reveals distinct functions for Ltbp-4 isoforms [PDF]
, 2015 Recent studies have revealed an important role for LTBP-4 in elastogenesis. Its mutational inactivation in humans causes autosomal recessive cutis laxa type 1C (ARCL1C), which is a severe disorder caused by defects of the elastic fiber network.
Bloch, Wilhelm +16 more
core +3 more sources
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
Clinical Genetics, Volume 106, Issue 5, Page 537-544, November 2024.15q24.1 microdeletion syndrome is a rare condition, rarely diagnosed before birth. We give new insights into prenatal malformations and candidate genes involved in embryogenesis. Such malformations on ultrasound scan, may lead to prenatal genetic testing. Abstract 15q24.1 microdeletion syndrome is a recently described condition often resulting from non‐
Anaïk Previdi +8 more
wiley +1 more source
Protein posttranslational modifications in metabolic diseases: basic concepts and targeted therapies
MedComm, Volume 5, Issue 10, October 2024.Posttranslational modifications of proteins are involved in the development of metabolism‐related diseases such as diabetes mellitus, obesity, hyperlipidemia, and nonalcoholic fatty liver disease. PTMs mediates the development of diabetes mellitus by affecting insulin homeostasis, glucose metabolism, diabetic complications, gluconeogenesis, and β‐cell ...
Yunuo Yang +4 more
wiley +1 more source
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 [PDF]
, 2017 Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic ...
Antón-Gamero, Montserrat +45 more
core +3 more sources
An Echinococcus multilocularis coproantigen is a surface glycoprotein with unique O-gycosylation [PDF]
, 2017 A major surface constituent of Echinococcus multilocularis adult worms, referred to as EmA9 antigen, was immunoaffinity purified and identified as a high molecular weight glycoconjugate.
Deplazes, P. +5 more
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