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Fabry disease (FD) is a hereditary lysosomal storage disorder caused by mutations in GLA gene resulting in reduction or lack of α-galactosidase A activity. In humans, enzymatic deficiency leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. Current therapie...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2023-10-24 | PXD035409 | Pride
Glioblastoma (GBM) carries a dismal prognosis largely due to acquired resistance to the standard treatment, which incorporates the chemotherapy temozolomide (TMZ). Inhibiting the proteasomal pathway is an emerging strategy, where combination treatments are under clinical investigation. We hypothesiz...
ORGANISM(S): Homo sapiens (Human) 
2023-03-10 | PXD021828 | Pride
This study aimed at exploring the proteomic profile of PBMCs to predict response to treatment in pulmonary tuberculosis (PTB). This was a pilot study conducted among 8 adult patients from Zanzibar, Tanzania with confirmed PTB. Blood samples were collected at baseline, at 2 months of treatment, and a...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD029634 | Pride
Background: A fundamental hallmark of cancer cells is their ability to sustain proliferative signaling and cell survival, reflected in a cellular chemotherapy response that is poorly understood. We questioned whether chemotherapy modulated phospho-signaling at 4 and 24 h in vivo could provide inform...
ORGANISM(S): Homo sapiens (Human) 
2022-10-26 | PXD031916 | Pride
Copy number variants (CNVs) are a major source of genetic variation in human health and disease. Previous studies have suggested replication stress, such as that caused by the polymerase inhibitor aphidicolin, as a causative factor in CNV formation, but existing data are technically limited in the ...
ORGANISM(S): Homo sapiens 
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