PERFORM Publications

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome

Author(s): Zykaj E; Abboud C; Asadi P; Warsame S; Almousa H; Milev MP; Greco BM; López-Sánchez M; Bratkovic D; Kachroo AH; Pérez-Jurado LA; Sacher M;

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regulators that are also involved in autophagy. Pathogenic genetic variants in specific TRAPP subunits a ...

Article GUID: 39273027

W361R mutation in GaaR, the regulator of D-galacturonic acid-responsive genes, leads to constitutive production of pectinases in Aspergillus niger.

Author(s): Alazi E, Niu J, Otto SB, Arentshorst M, Pham TTM, Tsang A, Ram AFJ

Microbiologyopen. 2019 May;8(5):e00732 Authors: Alazi E, Niu J, Otto SB, Arentshorst M, Pham TTM, Tsang A, Ram AFJ

Article GUID: 30298571

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A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome

W361R mutation in GaaR, the regulator of D-galacturonic acid-responsive genes, leads to constitutive production of pectinases in Aspergillus niger.