One hundred and fifty years ago, Johann Thudichum described sphingolipids as unusual
“Sphinx-like” lipids from the brain. Today, we know that thousands of sphingolipid molecules …

Inherited peripheral neuropathies (IPNs) are a group of diseases associated with mutations
in various genes with fundamental roles in the development and function of peripheral …

Serine, glycine and other nonessential amino acids are critical for tumour progression, and
strategies to limit their availability are emerging as potential therapies for cancer,–. However …

Background Identifying mechanisms of diseases with complex inheritance patterns, such as
macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 …

Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

Cellular lipid metabolism is a complex network process comprising dozens of enzymes,
multiple organelles and more than a thousand lipid species. Tracing metabolic reactions in …

Sphingolipids play an important role in the development of diabetes, both type 1 and type 2
diabetes, as well as in the development of both micro-and macro-vascular complications …

Sphingolipids (SLs) are fundamental components of eukaryotic cells. 1-Deoxysphingolipids
differ structurally from canonical SLs as they lack the essential C1-OH group. Consequently …

Gangliosides (GG s) are sialic acid‐containing glycosphingolipids (GSL s) and major
membrane components enriched on cellular surfaces. Biosynthesis of mammalian GG s …

Purpose To report the retinal phenotype and the associated genetic and systemic findings in
patients with mitochondrial disease. Design Retrospective case series. Participants Twenty …