Mirella Filocamo

Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks

Sofia Iacomussi, Lorena Casareto, Manuela Locatelli, Chiuhui Mary Wang et autres

The discussion concerning the measure of the quality of a biobank should focus not only on the number of stored samples and their quality but also on the assessment of their access arrangements and governance. This article aims at contributing to the …

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Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

Irene Motta, Dario Consonni, Marina Stroppiano, Christian Benedetto et autres

Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a …

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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs

Nicola Bedoni, Mathieu Quinodoz, Michele Pinelli, Gerarda Cappuccio et autres

We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis …

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Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease

Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka‐Nowicka, Anna Fogtman, Jarosław Cieśla et autres

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A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models

Roberto Costa, Stefania Bellesso, Susanna Lualdi, Rosa Manzoli et autres

Bone differentiation defects have been recently tied to Wnt signaling alterations occurring in vitro and in vivo Gaucher disease (GD) models. In this work, we provide evidence that the Wnt signaling multi-domain intracellular transducers Dishevelled 1 and 2 (DVL1 and DVL2) may …

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Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

Agnieszka Ługowska, Katarzyna Hetmańczyk-Sawicka, Roksana Iwanicka‐Nowicka, Anna Fogtman et autres

Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene. So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene …

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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutations

Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel Floriano Ludwig et autres

Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. GNPTAB and GNPTG encode the α/β-precursor and the γ-subunit of N-acetylglucosamine (GlcNAc)-1-phosphotransferase, respectively, the key …

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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Francesca Furlan, Attilio Rovelli, Miriam Rigoldi, Mirella Filocamo et autres

A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded before reaching the diagnosis of MPS VII …

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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are all monogenic defects, transmitted in an autosomal recessive way, except for MPS type II which …

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FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

Stefania Bellesso, Marika Salvalaio, Susanna Lualdi, Elisa Tognon et autres

Human Molecular Genetics, 2018, 27(13), 2262–2275. doi: 10.1093/hmg/ddy131 In Figure 3, the caption, in reference to charts C, D, and E, erroneously read “n = 50 larvae for each condition.” It should have read, “n = 5 fish for each condition.” This …

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Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Giacomo Frati, Marco Luciani, Vasco Meneghini, Silvia De Cicco et autres

The pathological cascade leading from primary storage to neural cell dysfunction and death in metachromatic leukodystrophy (MLD) has been poorly elucidated in human-derived neural cell systems. In the present study, we have modeled the progression of pathological events during the differentiation of …

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Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations

Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano et autres

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