Publications:

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

Jimd Reports

Kemme, Lisa L; Grüneberg, Marianne M; Reunert, Janine J; Rust, Stephan S; Park, Julien J; Westermann, Cordula C; Wada, Yoshinao Y; Schwartz, Oliver O; Marquardt, Thorsten T

Publication Date: 2021-07

Variant appearance in text: HP: 1189G>A

PubMed Link: 34258140

Variant Present in the following documents:

• JMD2-60-42.pdf

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Super-complexes of adhesion GPCRs and neural guidance receptors.

Nature Communications

Jackson, Verity A VA; Mehmood, Shahid S; Chavent, Matthieu M; Roversi, Pietro P; Carrasquero, Maria M; Del Toro, Daniel D; Seyit-Bremer, Goenuel G; Ranaivoson, Fanomezana M FM; Comoletti, Davide D; Sansom, Mark S P MS; Robinson, Carol V CV; Klein, Rüdiger R; Seiradake, Elena E

Publication Date: 2016-04-19

Variant appearance in text: HP: D397N

PubMed Link: 27091502

Variant Present in the following documents:

• Main text
• ncomms11184.pdf

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