Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.G67E
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CERT1

NM_001379029.1:p.G67E

Associated Papers

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Murakami H et al.

Plos One, 2020

The ceramide transporter and the Goodpasture antigen binding protein: one protein--one function?

Mencarelli C et al.

Journal of Neurochemistry, 2010

Goodpasture antigen-binding protein and its spliced variant, ceramide transfer protein, have different functions in the modulation of apoptosis during zebrafish development.

Granero-Moltó F et al.

The Journal of Biological Chemistry, 2008

Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.

Kawano M et al.

The Journal of Biological Chemistry, 2006

Discovery of the molecular machinery CERT for endoplasmic reticulum-to-Golgi trafficking of ceramide.

Hanada K

Molecular and Cellular Biochemistry, 2006

Molecular machinery for non-vesicular trafficking of ceramide.

Hanada K et al.

Nature, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."