2 results match your criteria: "University of Lorraine and University Regional Hospital Center of Nancy[Affiliation]"
Efficacy of low dose nitisinone in the management of alkaptonuria.
Mol Genet Metab
July 2019
Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France. Electronic address:
Aim: To study the efficacy of low dosage of nitisinone in alkaptonuria.
Background: Alkaptonuria (AKU) is a rare genetic disease which induces deposition of homogentisic acid (HGA) in connective inducing premature arthritis, lithiasis, cardiac valve disease, fractures, muscle and tendon ruptures and osteopenia. Recent studies showed that nitisinone decreases HGA and is a beneficial therapy in AKU.
Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR.
Nucleic Acids Res
September 2018
INSERM UMRS 954 NGERE - Nutrition, Genetics, and Environmental Risk Exposure and National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-lès-Nancy, F-54000, France.
The molecular mechanisms that underlie the neurological manifestations of patients with inherited diseases of vitamin B12 (cobalamin) metabolism remain to date obscure. We observed transcriptomic changes of genes involved in RNA metabolism and endoplasmic reticulum stress in a neuronal cell model with impaired cobalamin metabolism. These changes were related to the subcellular mislocalization of several RNA binding proteins, including the ELAVL1/HuR protein implicated in neuronal stress, in this cell model and in patient fibroblasts with inborn errors of cobalamin metabolism and Cd320 knockout mice.
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