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Human Molecular Genetics|January 17, 2020
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytesGretl Hendrickx, Tatyana Danyukova, Anke Baranowsky, et al.Matrix Biology : Journal of the International Society for Matrix Biology|November 16, 2018
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossificationChiara Paganini, Luca Monti, Rossella Costantini, et al.Environmental Research|May 12, 2026
CRISPR Screen Uncovers SLC26A2 as a Modulator of Tungsten Toxicity in Endochondral OssificationRowa Bakadlag, Sheena Li, Cynthia Guilbert, et al.Genes|November 27, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous DisordersMario Urtis, Chiara Paganini, Viviana Vilardo, et al.Brain : a Journal of Neurology|March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyAlessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.Clinical Genetics|September 29, 2022
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasiaJiddeke M van de Kamp, Arend Bökenkamp, Desiree E C Smith, et al.Bone|July 16, 2023
Identification of potential non-invasive biomarkers in diastrophic dysplasiaChiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, et al.Plos Genetics|March 22, 2018
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplasticaWing Lee Chan, Magdalena Steiner, Tomasz Witkos, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 4, 2018
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal TurnoverSandra Pohl, Alexandra Angermann, Anke Jeschke, et al.Pageof 3