Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Exploris 480, Q Exactive HF
ORGANISM(S): Homo Sapiens (human)
DISEASE(S): Lysosomal Storage Disease
SUBMITTER: Minh Thu Ma
LAB HEAD: Raquel Lieberman
PROVIDER: PXD058056 | Pride | 2025-05-07
REPOSITORIES: Pride
Action | DRS | |||
---|---|---|---|---|
20240529_DH_14_Gel2_h.pdResult | Other | |||
20240529_DH_14_Gel2_h.raw | Raw | |||
20240529_DH_14_Gel2_h.xlsx | Xlsx | |||
20240529_DH_4_Gel1_f.pdResult | Other | |||
20240529_DH_4_Gel1_f.raw | Raw |
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Dobert Jan Philipp JP Schäfer Jan-Hannes JH Dal Maso Thomas T Ravindran Priyadarshini P Huard Dustin J E DJE Socher Eileen E Schildmeyer Lisa A LA Lieberman Raquel L RL Versées Wim W Moeller Arne A Zunke Friederike F Arnold Philipp P
Nature communications 20250330 1
Targeting proteins to their final cellular destination requires transport mechanisms and nearly all lysosomal enzymes reach the lysosome via the mannose-6-phosphate receptor pathway. One of the few known exceptions is the enzyme β-glucocerebrosidase (GCase) that requires the lysosomal integral membrane protein type-2 (LIMP-2) as a proprietary lysosomal transporter. Genetic variations in the GCase encoding gene GBA1 cause Gaucher's disease (GD) and present the highest genetic risk factor to devel ...[more]