Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
Author:
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-019-01992-z/fulltext.html
Reference26 articles.
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2. Hahnewald R, Leimkuhler S, Vilaseca A, Acquaviva-Bourdain C, Lenz U, Reiss J (2006) A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. Mol Genet Metab 89:210–213
3. Hahnewald R, Wegner W, Reiss J (2009) AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model. Genet Vaccines Ther 7:9
4. Hinderhofer K, Mechler K, Hoffmann GF, Lampert A, Mountford WK, Ries M (2017) Critical appraisal of genotype assessment in molybdenum cofactor deficiency. J Inherit Metab Dis 40:801–811
5. Hitzert MM, Bos AF, Bergman KA, Veldman A, Schwarz G, Santamaria-Araujo JA, Heiner-Fokkema R, Sival DA, Lunsing RJ, Arjune S, Kosterink JG, van Spronsen FJ (2012) Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 130:e1005–e1010
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