Metabolic cardiomyopathies and cardiac defects in inherited disorders of carbohydrate metabolism: A systematic review
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death
worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and …
worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and …
The evolving genetic landscape of congenital disorders of glycosylation
MP Wilson, G Matthijs - Biochimica et Biophysica Acta (BBA)-General …, 2021 - Elsevier
Abstract Congenital Disorders of Glycosylation (CDG) are an expanding and complex group
of rare genetic disorders caused by defects in the glycosylation of proteins and lipids. The …
of rare genetic disorders caused by defects in the glycosylation of proteins and lipids. The …
The landscape of CRISPR/Cas9 for inborn errors of metabolism
AF Leal, N Fnu, E Benincore-Flórez… - Molecular genetics and …, 2023 - Elsevier
Since its discovery as a genome editing tool, the clustered regularly interspaced short
palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened …
palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened …
[HTML][HTML] CDG or not CDG
HH Freeze, J Jaeken, G Matthijs - Journal of inherited metabolic …, 2022 - ncbi.nlm.nih.gov
Congenital Disorders of Glycosylation (CDG) are an exponentially growing group of genetic
diseases. The first patients were reported in 1980 by Jaak Jaeken, and subsequently found …
diseases. The first patients were reported in 1980 by Jaak Jaeken, and subsequently found …
[HTML][HTML] Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology
We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different
gene defects and have proposed a classification system for CDG based on the mode of …
gene defects and have proposed a classification system for CDG based on the mode of …
[HTML][HTML] Hemostatic defects in congenital disorders of glycosylation
T Pascreau, C Auditeau, D Borgel - Research and Practice in Thrombosis …, 2023 - Elsevier
A “state of the Art” lecture titled “Hemostatic Defects in Congenital Disorders of
Glycosylation” was presented at the ISTH 2022 congress. Congenital disorders of …
Glycosylation” was presented at the ISTH 2022 congress. Congenital disorders of …
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by
hypoglycosylation. We here report the identification of 16 individuals from nine families who …
hypoglycosylation. We here report the identification of 16 individuals from nine families who …
Inherited proteoglycan biosynthesis defects—current laboratory tools and bikunin as a promising blood biomarker
W Haouari, J Dubail, C Poüs, V Cormier-Daire… - Genes, 2021 - mdpi.com
Proteoglycans consist of proteins linked to sulfated glycosaminoglycan chains. They
constitute a family of macromolecules mainly involved in the architecture of organs and …
constitute a family of macromolecules mainly involved in the architecture of organs and …
Hypoxia stress alters gene expression in the gills and spleen of greater amberjack (Seriola dumerili)
D Li, W Zhang, T Wang, Y Yang, S Hua, Q Ruan… - Fish & Shellfish …, 2024 - Elsevier
Greater amberjack (Seriola dumerili) is a fish species that has significant economic and
cultural value. It has a large size and grows rapidly. However, the intolerance to hypoxia …
cultural value. It has a large size and grows rapidly. However, the intolerance to hypoxia …
Genetic aetiologies of acute liver failure
R Hegarty, RJ Thompson - Journal of Inherited Metabolic …, 2024 - Wiley Online Library
Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating
consequences where definitive treatment is by emergency liver transplantation. Establishing …
consequences where definitive treatment is by emergency liver transplantation. Establishing …