CDG therapies: from bench to bedside
Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …
GNE myopathy: from clinics and genetics to pathology and research strategies
O Pogoryelova, JA González Coraspe… - Orphanet journal of rare …, 2018 - Springer
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle
weakness and ultimately leads to a wheelchair bound state. Molecular research and animal …
weakness and ultimately leads to a wheelchair bound state. Molecular research and animal …
Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation
The mechanisms and treatment of psychomotor retardation, which includes motor and
cognitive impairment, are indefinite. The Allan-Herndon-Dudley syndrome (AHDS) is an X …
cognitive impairment, are indefinite. The Allan-Herndon-Dudley syndrome (AHDS) is an X …
In vivo and in vitro genome editing to explore GNE functions
N Ilouz, A Harazi, M Guttman, A Daya… - Frontiers in Genome …, 2022 - frontiersin.org
GNE myopathy is an adult onset neuromuscular disorder characterized by slowly
progressive distal and proximal muscle weakness, caused by missense recessive mutations …
progressive distal and proximal muscle weakness, caused by missense recessive mutations …
Generation and characterization of a novel gne Knockout Model in Zebrafish
H Livne, T Avital, S Ruppo, A Harazi… - Frontiers in Cell and …, 2022 - frontiersin.org
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused
by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional …
by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional …
Genetic defects in the hexosamine and sialic acid biosynthesis pathway
AP Willems, BGM van Engelen, DJ Lefeber - Biochimica et Biophysica Acta …, 2016 - Elsevier
Background Congenital disorders of glycosylation are caused by defects in the glycosylation
of proteins and lipids. Classically, gene defects with multisystem disease have been …
of proteins and lipids. Classically, gene defects with multisystem disease have been …
Role of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: Therapeutic lead for GNE Myopathy
R Yadav, SS Devi, J Oswalia, S Ramalingam… - The International Journal …, 2022 - Elsevier
Limited treatment options and research in understanding the pathomechanisms of rare
diseases has raised concerns about their therapeutic development. One such poorly …
diseases has raised concerns about their therapeutic development. One such poorly …
“Muscling” throughout life: integrating studies of muscle development, homeostasis, and disease in zebrafish
The proper development and function of skeletal muscle is vital for health throughout the
lifespan. Skeletal muscle function enables posture, breathing, and locomotion; and also …
lifespan. Skeletal muscle function enables posture, breathing, and locomotion; and also …
Induced sterility in fish and its potential and challenges for aquaculture and germ cell transplantation technology: a review
Interest in reproductively sterile fish in aquaculture has prompted research into their
production. Several methods are available for inducing sterility and optimizing its application …
production. Several methods are available for inducing sterility and optimizing its application …
Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder
Abstract UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-
terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in …
terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in …