Article
Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).
Stem cell research - 1 Oct 2017
Wu Jianbo, Hunt Samuel D, Matthias Nadine, Servián-Morilla Emilia, Lo Jonathan, Jafar-Nejad Hamed, Paradas Carmen, Darabi Radbod
Abstract excerpt
Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase-Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C consensus sequence such as Notch receptors. Affected patients demonstrate reduced Notch signaling, decreased muscle...
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