Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference40 articles.
1. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Anna;J. Appl. Genet.,2018
2. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells;Cao;PLoS One,2011
3. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant;Epstein;Proc. Natl. Acad. Sci. USA,1993
4. Differentiation of human embryonic stem cells to regional specific neural precursors in chemically defined medium conditions;Erceg;PLoS One.,2008
5. Specific delay in the degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis is derived from cellular proteolytic dysfunction rather than structural alteration of subunit c;Ezaki;J. Neurochem.,1996
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