Concepedia

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan

Maria Marchese, Andrea A. Pappalardo, Jacopo Baldacci, Tiziano Verri, Stefano Doccini, Denise Cassandrini, Claudio Bruno, Chiara Fiorillo, Mercedes Garcia‐Gil, Enrico Bertini,

Biochemical and Biophysical Research Communications · 2016 · 21 citations · 24 references

DOI

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24

High-resolution in situ hybridization to whole-mount zebrafish embryos

Christine Thisse, Bernard Thisse · Nature Protocols · 2007 · 2.7K citations

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The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

Heli Putaala · Human Molecular Genetics · 2001 · 533 citations · Full text

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Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

James J. Dowling, Andrew P. Vreede, Sean E. Low et al. · PLoS Genetics · 2009 · 230 citations · Full text

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Congenital disorders of glycosylation

Jaak Jaeken · Annals of the New York Academy of Sciences · 2010 · 220 citations

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Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava et al. · The American Journal of Human Genetics · 2009 · 198 citations · Full text

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