Publications by authors named "Elisabeth Grimm"
Article Synopsis
- * Researchers created a mouse model with a fluorescent protein fused to clathrin light chain a (Clta) to visualize CME in real time across different tissues using fluorescence and microscopy techniques.
- * This model allows tracking of endocytosis in living mice and could provide insights into the roles of clathrin light chain isoforms in various health conditions and diseases.
Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptychotropic erythrokeratoderma. We report another patient with compound heterozygous mutations in KDSR, born with generalized harlequin ichthyosis, which progressed into palmoplantar keratoderma.
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