Publications:

ESCRT-I fuels lysosomal degradation to restrict TFEB/TFE3 signaling via the Rag-mTORC1 pathway.

Life Science Alliance

Wróbel, Marta M; Cendrowski, Jarosław J; Szymańska, Ewelina E; Grębowicz-Maciukiewicz, Malwina M; Budick-Harmelin, Noga N; Macias, Matylda M; Szybińska, Aleksandra A; Mazur, Michał M; Kolmus, Krzysztof K; Goryca, Krzysztof K; Dąbrowska, Michalina M; Paziewska, Agnieszka A; Mikula, Michał M; Miączyńska, Marta M

Publication Date: 2022-07

Variant appearance in text: GC: S181L

PubMed Link: 35354596

Variant Present in the following documents:

• LSA-2021-01239.pdf

View BVdb publication page

Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Human Mutation

Del Angel, Guillermo G; Reynders, John J; Negron, Christopher C; Steinbrecher, Thomas T; Mornet, Etienne E

Publication Date: 2020-07

Variant appearance in text: GC: Ser181Leu

PubMed Link: 32160374

Variant Present in the following documents:

• HUMU-41-1250-s002.xlsx, sheet 1

View BVdb publication page