Article
Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Feb 2021
Loers Gabriele, Appel Dominik, Lutz David, Congiu Ludovica, Kleene Ralf, Hermans-Borgmeyer Irm, Schäfer Michael K E, Schachner Melitta
Abstract excerpt
L1 syndrome is a rare developmental disorder characterized by hydrocephalus of varying severity, intellectual deficits, spasticity of the legs, and adducted thumbs. Therapy is limited to symptomatic relief. Numerous gene mutations in the L1 cell adhesion molecule (L1CAM, hereafter abbreviated L1) were identified in L1 syndrome patients, and those affecting the extracellular domain of this transmembrane type 1...
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