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Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9

• Authors : Emilia Stellacci; Marcello Niceta; Alessandro Bruselles

Subjects: whole genome sequencing; BBS9; structural variant

• Source: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8313 (2024)

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Metabolic labelling of a subpopulation of small extracellular vesicles using a fluorescent palmitic acid analogue

• Authors : Valeria Barreca; Zaira Boussadia; Deborah Polignano

Subjects: exosome biogenesis; exosomes; extracellular vesicles

• Source: Journal of Extracellular Vesicles, Vol 12, Iss 12, Pp n/a-n/a (2023)

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Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

• Authors : Lucia Ziccardi; Marcello Niceta; Emilia Stellacci

Subjects: inherited retinal degeneration; whole exome sequencing; primary ciliumagris

• Source: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 14656

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Saposin B binds and transfers phospholipids

• Authors : Fiorella Ciaffoni; Massimo Tatti; Alessandra Boe

Subjects: phospholipid binding; phospholipid transfer; Saposin-membrane interaction

• Source: Journal of Lipid Research, Vol 47, Iss 5, Pp 1045-1053 (2006)

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Glucosylceramidase Mass and Subcellular Localization Are Modulated by Cholesterol in Niemann-Pick Disease Type C

• Authors : Massimo Tatti; Marie T. Vanier; Carlo Ramoni

Subjects: Cell Biology; Molecular Biology; Biochemistry

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Interaction of saposin D with membranes: effect of anionic phospholipids and sphingolipids

• Authors : Fiorella Ciaffoni; Massimo Tatti; Rosa Salvioli ...

• Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223540/pdf/12733985.pdf.

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Structural and membrane-binding properties of saposin D

• Authors : Rosa Salvioli; Massimo Tatti; Annapaola Andolfo

Subjects: Ceramide; Glycosylation; Molecular Sequence Data

• Source: European Journal of Biochemistry. 263:486-494

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[Untitled]

• Authors : Anna M. Vaccaro; Marialetizia Motta; Massimo Tatti ...

• Source: http://hmg.oxfordjournals.org/content/early/2010/05/19/hmg.ddq204.full.pdf.

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