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  1. Article ; Online: Validation of analytical methods for the production of expanded γδ T lymphocytes useful for therapeutic purposes.

    Morandi, Fabio / Della Lastra, Martina / Zara, Federico / Airoldi, Irma

    Current research in translational medicine

    2024  Volume 72, Issue 4, Page(s) 103445

    Abstract: The use of γδ T lymphocytes as advanced therapeutic medicinal product has attracted much interest in the last years. Indeed, such cells are an ideal tool for the reconstitution of the immune system in patients receiving hematopoietic stem cell ... ...

    Abstract The use of γδ T lymphocytes as advanced therapeutic medicinal product has attracted much interest in the last years. Indeed, such cells are an ideal tool for the reconstitution of the immune system in patients receiving hematopoietic stem cell transplantation, due to their MHC-independent anti-tumor and anti-viral activities. We have here setup a protocol for the production of pure and functional γδ T lymphocytes, expanded from healthy donors' mononuclear cells, and validated the analytical methods to identify them and to analyze their potency. Next, we performed stability studies to ensure that the cell product (γδ T cells) can be used after freezing and thawing. Notably, such protocol can be promptly translated to GMP-facility, since it has been designed using only clinical grade reagents.
    Language English
    Publishing date 2024-03-05
    Publishing country France
    Document type Journal Article
    ISSN 2452-3186
    ISSN (online) 2452-3186
    DOI 10.1016/j.retram.2024.103445
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Microbes identified from monitoring cell manipulations in 5-year life of the Cell Factory G. Gaslini.

    Morandi, Fabio / Della Lastra, Martina / Bandettini, Roberto / Tripodi, Gino / Zara, Federico / Airoldi, Irma

    Regenerative therapy

    2024  Volume 27, Page(s) 234–243

    Abstract: Introduction: Quality and safety of a cell product, essential to guarantee the health of patients, depends on many factors including an appropriate environmental monitoring of the manufacturing rooms. Nonetheless, the maintenance of a controlled ... ...

    Abstract Introduction: Quality and safety of a cell product, essential to guarantee the health of patients, depends on many factors including an appropriate environmental monitoring of the manufacturing rooms. Nonetheless, the maintenance of a controlled environment is requested to minimize the risk of contamination. Thus, a timely detection of changes in microbiological trends is important to adopt promptly effective measures against resistant strains that, in turn, may invalidate not only the sanitization procedures but also the safety of the cell product.
    Methods: We analyzed microbes found in our cell processing clean room over the last 5 years. We used 10.147 plates for air sampler, passive air monitoring and for checking instruments and operators of the production unit.
    Results: From these plates, 747 colonies were subjected to identification by the MALDI-TOF Vitek® MS system and the large majority of them was gram positive (97.8%) as witnessed by the finding that the most represented
    Conclusions: The observed microbial contamination is to be attributed to the personnel and no substantial microbial pitfalls in our Cell Factory has been detected.
    Language English
    Publishing date 2024-04-04
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2835333-X
    ISSN 2352-3204 ; 2352-3204
    ISSN (online) 2352-3204
    ISSN 2352-3204
    DOI 10.1016/j.reth.2024.03.028
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Reply to Braun et al. "Novel bathing epilepsy in a patient with 2q22.3q23.2 deletion".

    Accogli, Andrea / Zara, Federico / Striano, Pasqule

    Seizure

    2021  Volume 91, Page(s) 112–113

    MeSH term(s) Epilepsy, Reflex ; Humans ; Seizures
    Language English
    Publishing date 2021-06-09
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1137610-7
    ISSN 1532-2688 ; 1059-1311
    ISSN (online) 1532-2688
    ISSN 1059-1311
    DOI 10.1016/j.seizure.2021.06.001
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3573: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  4. Article ; Online: SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease.

    Gorrieri, Giulia / Zara, Federico / Scudieri, Paolo

    Biomolecules

    2022  Volume 12, Issue 2

    Abstract: SLC26A9 belongs to the solute carrier family 26 (SLC26), which comprises membrane proteins involved in ion transport mechanisms. On the basis of different preliminary findings, including the phenotype of SlC26A9-deficient mice and its possible role as a ... ...

    Abstract SLC26A9 belongs to the solute carrier family 26 (SLC26), which comprises membrane proteins involved in ion transport mechanisms. On the basis of different preliminary findings, including the phenotype of SlC26A9-deficient mice and its possible role as a gene modifier of the human phenotype and treatment response, SLC26A9 has emerged as one of the most interesting alternative targets for the treatment of cystic fibrosis (CF). However, despite relevant clues, some open issues and controversies remain. The lack of specific pharmacological modulators, the elusive expression reported in the airways, and its complex relationships with CFTR and the CF phenotype prevent us from conclusively understanding the contribution of SLC26A9 in human lung physiology and its real potential as a therapeutic target in CF. In this review, we summarized the various studies dealing with SLC26A9 expression, molecular structure, and function as an anion channel or transporter; its interaction and functional relationships with CFTR; and its role as a gene modifier and tried to reconcile them in order to highlight the current understanding and the gap in knowledge regarding the contribution of SLC26A9 to human lung physiology and CF disease and treatment.
    MeSH term(s) Animals ; Antiporters/genetics ; Antiporters/metabolism ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Humans ; Ion Transport ; Mice ; Sulfate Transporters/genetics ; Sulfate Transporters/metabolism ; Sulfate Transporters/therapeutic use
    Chemical Substances Antiporters ; SLC26A9 protein, human ; Slc26a9 protein, mouse ; Sulfate Transporters ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2022-01-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom12020202
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  5. Article ; Online: ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.

    Dębczyński, Michał / Gorrieri, Giulia / Mojsak, Damian / Guida, Floriana / Zara, Federico / Scudieri, Paolo

    Biomolecules

    2023  Volume 13, Issue 10

    Abstract: ... ...

    Abstract ATP12A
    MeSH term(s) Humans ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/metabolism ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Respiration Disorders ; Respiratory Tract Diseases/drug therapy ; Ion Transport ; Protons ; H(+)-K(+)-Exchanging ATPase/metabolism ; H(+)-K(+)-Exchanging ATPase/therapeutic use
    Chemical Substances Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; Protons ; ATP12A protein, human (EC 3.6.3.10) ; H(+)-K(+)-Exchanging ATPase (EC 3.6.3.10)
    Language English
    Publishing date 2023-09-27
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom13101455
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  6. Article ; Online: Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

    Gorrieri, Giulia / Tamburro, Serena / Baldassari, Simona / Guerrisi, Sara / Zara, Federico / Ricci, Emilia / Maria Cordelli, Duccio / Scudieri, Paolo / Musante, Ilaria

    Stem cell research

    2024  Volume 76, Page(s) 103333

    Abstract: ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system. ... ...

    Abstract ZEB2 is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system. The best-known clinical picture associated with ZEB2 mutations is Mowat-Wilson syndrome, caused mostly by haploinsufficiency and characterized by possible multi-organ malformations, dysmorphic features, intellectual disability, and epilepsy. In this study we report the generation of IGGi004-A and IGGi005-A, iPSC clones from two patients carrying different heterozygous mutations in ZEB2, which can be used for disease modelling, pathophysiological studies and therapeutics testing.
    MeSH term(s) Humans ; Intellectual Disability/complications ; Zinc Finger E-box Binding Homeobox 2/genetics ; Induced Pluripotent Stem Cells ; Mutation/genetics ; Transcription Factors/genetics ; Homeodomain Proteins/genetics ; Hirschsprung Disease ; Microcephaly ; Facies
    Chemical Substances Zinc Finger E-box Binding Homeobox 2 ; Transcription Factors ; Homeodomain Proteins ; ZEB2 protein, human
    Language English
    Publishing date 2024-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2024.103333
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: New phenotype caused by POMGNT2 mutations.

    Cassone, Marco / Fiorillo, Chiara / Zara, Federico / Vitali, Carlo

    BMJ case reports

    2021  Volume 14, Issue 7

    Abstract: We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, ...

    Abstract We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype-phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G>A, p.Asp171Asn, rs768063378) was detected.
    MeSH term(s) Child, Preschool ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Muscular Dystrophies ; Mutation ; Phenotype
    Language English
    Publishing date 2021-07-22
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2021-242358
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  8. Article ; Online: Corrigendum to "Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation" [Brain Dev. 38(1) (2016) 128-131].

    Dilena, Robertino / Striano, Pasquale / Traverso, Monica / Viri, Maurizio / Cristofori, Gloria / Tadini, Laura / Barbieri, Sergio / Romeo, Antonino / Zara, Federico

    Brain & development

    2023  Volume 46, Issue 2, Page(s) 124

    Language English
    Publishing date 2023-11-25
    Publishing country Netherlands
    Document type Published Erratum
    ZDB-ID 604822-5
    ISSN 1872-7131 ; 0387-7604
    ISSN (online) 1872-7131
    ISSN 0387-7604
    DOI 10.1016/j.braindev.2023.11.006
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1788: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  9. Article: ARHGEF9

    Striano, Pasquale / Zara, Federico

    Neurology. Genetics

    2017  Volume 3, Issue 3, Page(s) e159

    Language English
    Publishing date 2017-05-26
    Publishing country United States
    Document type Editorial
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000159
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Epilepsy: Common and rare epilepsies share genetic determinants.

    Striano, Pasquale / Zara, Federico

    Nature reviews. Neurology

    2017  Volume 13, Issue 4, Page(s) 200–201

    MeSH term(s) Epileptic Syndromes/genetics ; Humans ; Whole Exome Sequencing
    Language English
    Publishing date 2017-03-10
    Publishing country England
    Document type News
    ZDB-ID 2491514-2
    ISSN 1759-4766 ; 1759-4758
    ISSN (online) 1759-4766
    ISSN 1759-4758
    DOI 10.1038/nrneurol.2017.30
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    Zs.A 6257: Show issues Location:
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