Publications:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: HEXA: P446P

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Plos One

Mistri, Mehul M; Tamhankar, Parag M PM; Sheth, Frenny F; Sanghavi, Daksha D; Kondurkar, Pratima P; Patil, Swapnil S; Idicula-Thomas, Susan S; Gupta, Sarita S; Sheth, Jayesh J

Publication Date: 2012

Variant appearance in text: rs34085965

PubMed Link: 22723944

Variant Present in the following documents:

• Main text
• pone.0039122.pdf

View BVdb publication page