[HTML][HTML] CDG therapies: from bench to bedside
S Brasil, C Pascoal, R Francisco… - International journal of …, 2018 - mdpi.com
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 …
[HTML][HTML] 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 …
The PGRS domain of Mycobacterium tuberculosis PE_PGRS protein Rv0297 is involved in endoplasmic reticulum stress-mediated apoptosis through toll-like receptor …
The genome of Mycobacterium tuberculosis, the causal organism of tuberculosis (TB),
encodes a unique protein family known as the PE/PPE/PGRS family, present exclusively in …
encodes a unique protein family known as the PE/PPE/PGRS family, present exclusively in …
[HTML][HTML] Hereditary inclusion-body myopathies
A Broccolini, M Mirabella - Biochimica et Biophysica Acta (BBA)-Molecular …, 2015 - Elsevier
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle
disorders with autosomal recessive or dominant inheritance and presence of muscle fibers …
disorders with autosomal recessive or dominant inheritance and presence of muscle fibers …
[HTML][HTML] Altered actin dynamics in cell migration of GNE mutant cells
Cell migration is an essential cellular process that requires coordination of cytoskeletal
dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in …
dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in …
[HTML][HTML] Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis
The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) plays a key role
in sialic acid production. It is different from the non-hydrolyzing enzymes for bacterial cell …
in sialic acid production. It is different from the non-hydrolyzing enzymes for bacterial cell …
Understanding pathophysiology of GNE myopathy and current progress towards drug development
F Mashangva, S Singh, J Oswalia, R Arya - Journal of Biosciences, 2024 - Springer
GNE myopathy is a rare genetic neuromuscular disease that is caused due to mutations in
the GNE gene responsible for sialic acid biosynthesis. Foot drop is the most common initial …
the GNE gene responsible for sialic acid biosynthesis. Foot drop is the most common initial …
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 …
[HTML][HTML] The role of amyloid β in the pathological mechanism of GNE myopathy
T Zhang, R Shang, J Miao - Neurological Sciences, 2022 - Springer
GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and
weakness initially involving the lower distal extremities. The treatment of GNE myopathy …
weakness initially involving the lower distal extremities. The treatment of GNE myopathy …