Tatyana Danyukova

TL;DR: Depletion of multiple soluble lysosomal proteins suggest a critical role of CLN7 for lysOSomal function, which may contribute to the pathogenesis and progression of ClN7 disease.

TL;DR: The GNPTAB and GNPTG genes encode the α/β-precursor and the γ-subunit of N-acetylglucosamine (GlcNAc)-1-phosphotransferase, respectively, the key enzyme for the generation of mannose 6phosphate targeting signals on lysosomal enzymes.

TL;DR: It is demonstrated for the first time that the putative lysosomal transporter CLN7 is relevant for lysOSome motility and plays an important role for neuronal cell survival under conditions of starvation.

TL;DR: It is demonstrated that PPT1 dysfunction results in early-onset pathological alterations in the mutant retina, followed by a progressive degeneration of various retinal cell types at relatively late stages of the disease.

TL;DR: It is found that all bone-remodeling abnormalities of Arsb-deficient mice were prevented by ERT, whereas chondrocyte defects were not, and histologic analysis of the surgically removed femoral head from an ERT-treated MPS-VI patient revealed that only chONDrocytes were pathologically affected.