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Title:           RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Subject:         Nature Communications, doi:10.1038/s41467-025-56876-w
Keywords:        
Author:          Avinash V. Dharmadhikari
Creator:         Springer
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     Item: 
      Title: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
      Destination: title_link
      Children: 
       Item: 
        Title: Results
        Destination: A1
        Children: 
         Item: 
          Title: Individuals with bi-allelic rare variants in SPOUT1/CENP-32 display neurodevelopmental delays, seizures, microcephaly and short stature (SpADMiSS)
          Destination: B1
         Item: 
          Title: Zebrafish spout1/cenp-32 depletion causes neuroanatomical defects
          Destination: B2
         Item: 
          Title: spout1/cenp-32 depletion in vivo causes increased apoptosis and prolonged cell cycle
          Destination: B3
         Item: 
          Title: SPOUT1/CENP-32 variants identified in humans are pathogenic according to zebrafish in vivo complementation assays
          Destination: B4
         Item: 
          Title: Structural analysis of SPOUT1/CENP-32 reveals a SAM-dependent SPOUT methyltransferase domain suitable for catalytic activity
          Destination: B5
         Item: 
          Title: SPOUT1/CENP-32 is an active RNA MTase
          Destination: B6
         Item: 
          Title: Catalytic activity of SPOUT1/CENP-32 is necessary for centrosome tethering to the spindle poles
          Destination: B7
         Item: 
          Title: Disease-associated SPOUT1/CENP-32 missense variants show reduced methyltransferase activity
          Destination: B8
         Item: 
          Title: SPOUT1/CENP-32 missense variants affect the role of SPOUT1/CENP-32 in maintaining spindle integrity
          Destination: B9
       Item: 
        Title: Discussion
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       Item: 
        Title: Methods
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        Children: 
         Item: 
          Title: Inclusion and ethics statement, recruitment of families, and evaluation
          Destination: B10
         Item: 
          Title: Genetic analyses
          Destination: B11
         Item: 
          Title: Zebrafish husbandry and embryo maintenance
          Destination: B12
         Item: 
          Title: CRISPR/Cas9 mediated genome editing in zebrafish embryos
          Destination: B13
         Item: 
          Title: DNA extraction from Dent’s or paraformaldehyde fixed embryos
          Destination: B14
         Item: 
          Title: Quantitative real-time PCR (qPCR)
          Destination: B15
         Item: 
          Title: Transient suppression of spout1/cenp-32 by Splice Blocking Morpholino (sb-MO)
          Destination: B16
         Item: 
          Title: Molecular cloning of human ORF (SPOUT1/CENP-32), site directed mutagenesis and in-vitro transcription
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         Item: 
          Title: Zebrafish phenotyping
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           Item: 
            Title: Live imaging of zebrafish larvae and bright field morphometrics
            Destination: C1
           Item: 
            Title: Whole-mount TUNEL assay
            Destination: C2
           Item: 
            Title: Immunostaining on whole-mount zebrafish larvae
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           Item: 
            Title: spout1/cenp-32 mutant activity tracking
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           Item: 
            Title: Fluorescence microscopy and image processing
            Destination: C5
           Item: 
            Title: Mouse care and experimentation
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           Item: 
            Title: In utero electroporation
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           Item: 
            Title: In situ hybridization
            Destination: C8
           Item: 
            Title: Immunohistochemistry
            Destination: C9
           Item: 
            Title: Image acquisition and processing
            Destination: C10
           Item: 
            Title: Protein expression and purification of SPOUT1/CENP-32 for crystallization
            Destination: C11
           Item: 
            Title: SPOUT1/CENP-32 crystallization, data collection, crystal structure solution and refinement
            Destination: C12
           Item: 
            Title: Methyltransferase assays
            Destination: C13
           Item: 
            Title: Size exclusion Chromatography
            Destination: C14
           Item: 
            Title: Mass photometry
            Destination: C15
           Item: 
            Title: DNA constructs and generation of SPOUT1/CENP-32-GFP stable cell lines
            Destination: C16
           Item: 
            Title: In vitro rescue experiments and Immunofluorescence microscopy
            Destination: C17
           Item: 
            Title: Cell viability assays
            Destination: C18
           Item: 
            Title: Size Exclusion chromatography coupled to multi-angle light scattering
            Destination: C19
           Item: 
            Title: Western Blot
            Destination: C20
         Item: 
          Title: Statistics & reproducibility
          Destination: B19
         Item: 
          Title: Reporting summary
          Destination: B20
       Item: 
        Title: Data availability
        Destination: M1
       Item: 
        Title: References
        Destination: A4
       Item: 
        Title: Acknowledgements
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       Item: 
        Title: Author contributions
        Destination: A6
       Item: 
        Title: Competing interests
        Destination: A7
       Item: 
        Title: Additional information
        Destination: M3
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    Title: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
    Author: Avinash V. Dharmadhikari
    Subject: Nature Communications, doi:10.1038/s41467-025-56876-w
    Keywords: 
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                           <pdfaProperty:description>Part of PDF/A standard</pdfaProperty:description>
                           <pdfaProperty:name>part</pdfaProperty:name>
                           <pdfaProperty:valueType>Integer</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>internal</pdfaProperty:category>
                           <pdfaProperty:description>Amendment of PDF/A standard</pdfaProperty:description>
                           <pdfaProperty:name>amd</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>internal</pdfaProperty:category>
                           <pdfaProperty:description>Conformance level of PDF/A standard</pdfaProperty:description>
                           <pdfaProperty:name>conformance</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:property>
               </rdf:li>
               <rdf:li rdf:parseType="Resource">
                  <pdfaSchema:namespaceURI>http://crossref.org/crossmark/1.0/</pdfaSchema:namespaceURI>
                  <pdfaSchema:prefix>crossmark</pdfaSchema:prefix>
                  <pdfaSchema:schema>crossmark</pdfaSchema:schema>
                  <pdfaSchema:property>
                     <rdf:Seq>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>internal</pdfaProperty:category>
                           <pdfaProperty:description>CrossMarkDomains</pdfaProperty:description>
                           <pdfaProperty:name>CrossMarkDomains</pdfaProperty:name>
                           <pdfaProperty:valueType>Seq Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>internal</pdfaProperty:category>
                           <pdfaProperty:description>CrossmarkDomainExclusive</pdfaProperty:description>
                           <pdfaProperty:name>CrossmarkDomainExclusive</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>internal</pdfaProperty:category>
                           <pdfaProperty:description>Usual same as prism:doi</pdfaProperty:description>
                           <pdfaProperty:name>DOI</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>The date when a publication was published.</pdfaProperty:description>
                           <pdfaProperty:name>MajorVersionDate</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:property>
               </rdf:li>
               <rdf:li rdf:parseType="Resource">
                  <pdfaSchema:namespaceURI>http://prismstandard.org/namespaces/basic/2.0/</pdfaSchema:namespaceURI>
                  <pdfaSchema:prefix>prism</pdfaSchema:prefix>
                  <pdfaSchema:schema>Prism</pdfaSchema:schema>
                  <pdfaSchema:property>
                     <rdf:Seq>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>The aggregation type specifies the unit of aggregation for a content collection. 
Comment 
PRISM recommends that the PRISM Aggregation Type Controlled Vocabulary be used to provide values for this element. 
Note: PRISM recommends against the use of the #other value currently allowed in this controlled vocabulary. In lieu of using #other please reach out to the PRISM group at info@prismstandard.org to request addition of your term to the Aggregation Type Controlled Vocabulary. 

</pdfaProperty:description>
                           <pdfaProperty:name>aggregationType</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>Copyright </pdfaProperty:description>
                           <pdfaProperty:name>copyright</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>The Digital Object Identifier for the article.
The DOI may also be used as the dc:identifier. If used as a dc:identifier, the URI form should be captured, and the bare identifier should also be captured using prism:doi. If an alternate unique identifier is used as the required dc:identifier, then the DOI should be specified as a bare identifier within prism:doi only. 
If the URL associated with a DOI is to be specified, then prism:url may be used in conjunction with prism:doi in order to provide the service endpoint (i.e. the URL). 
</pdfaProperty:description>
                           <pdfaProperty:name>doi</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>ISSN for an electronic version of the issue in which the resource occurs. 
Permits publishers to include a second ISSN, identifying an electronic version of the issue in which the resource occurs (therefore e(lectronic)Issn. If used, prism:eIssn MUST contain the ISSN of the electronic version. See prism:issn. 
</pdfaProperty:description>
                           <pdfaProperty:name>issn</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>Title of the magazine, or other publication, in which a resource was/will be published. 
Typically this will be used to provide the name of the magazine an article appeared in as metadata for the article, along with information such as the article title, the publisher, volume, number, and cover date. 

Note: Publication name can be used to differentiate between a print magazine and the online version if the names are different such as “magazine” and “magazine.com.” 
</pdfaProperty:description>
                           <pdfaProperty:name>publicationName</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>This element provides the url for an article or unit of content. 
The attribute platform is optionally allowed for situations in which multiple URLs must be specified. PRISM recommends that a subset of the PCV platform values, namely “mobile” and “web”, be used in conjunction with this element. 
NOTE: PRISM recommends against the use of the #other value allowed in the PRISM Platform controlled vocabulary. In lieu of using #other please reach out to the PRISM group at prism-wg@yahoogroups.com to request addition of your term to the Platform Controlled Vocabulary. 
</pdfaProperty:description>
                           <pdfaProperty:name>url</pdfaProperty:name>
                           <pdfaProperty:valueType>Text</pdfaProperty:valueType>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:property>
               </rdf:li>
               <rdf:li rdf:parseType="Resource">
                  <pdfaSchema:namespaceURI>http://springernature.com/ns/xmpExtensions/2.0/</pdfaSchema:namespaceURI>
                  <pdfaSchema:prefix>sn</pdfaSchema:prefix>
                  <pdfaSchema:schema>Springer Nature ORCID Schema</pdfaSchema:schema>
                  <pdfaSchema:property>
                     <rdf:Seq>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>Author information: contains the name of each author and his/her ORCID (ORCiD: Open Researcher and Contributor ID). An ORCID is a persistent identifier (a non-proprietary alphanumeric code) to uniquely identify scientific and other academic authors.</pdfaProperty:description>
                           <pdfaProperty:name>authorInfo</pdfaProperty:name>
                           <pdfaProperty:valueType>Bag AuthorInformation</pdfaProperty:valueType>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:property>
                  <pdfaSchema:valueType>
                     <rdf:Seq>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaType:description>Specifies the types of author information: name and ORCID of an author.</pdfaType:description>
                           <pdfaType:namespaceURI>http://springernature.com/ns/xmpExtensions/2.0/authorInfo/</pdfaType:namespaceURI>
                           <pdfaType:prefix>author</pdfaType:prefix>
                           <pdfaType:type>AuthorInformation</pdfaType:type>
                           <pdfaType:field>
                              <rdf:Seq>
                                 <rdf:li rdf:parseType="Resource">
                                    <pdfaField:description>Gives the name of an author.</pdfaField:description>
                                    <pdfaField:name>name</pdfaField:name>
                                    <pdfaField:valueType>Text</pdfaField:valueType>
                                 </rdf:li>
                                 <rdf:li rdf:parseType="Resource">
                                    <pdfaField:description>Gives the ORCID of an author.</pdfaField:description>
                                    <pdfaField:name>orcid</pdfaField:name>
                                    <pdfaField:valueType>URI</pdfaField:valueType>
                                 </rdf:li>
                              </rdf:Seq>
                           </pdfaType:field>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:valueType>
               </rdf:li>
               <rdf:li rdf:parseType="Resource">
                  <pdfaSchema:namespaceURI>http://www.niso.org/schemas/jav/1.0/</pdfaSchema:namespaceURI>
                  <pdfaSchema:prefix>jav</pdfaSchema:prefix>
                  <pdfaSchema:schema>NISO</pdfaSchema:schema>
                  <pdfaSchema:property>
                     <rdf:Seq>
                        <rdf:li rdf:parseType="Resource">
                           <pdfaProperty:category>external</pdfaProperty:category>
                           <pdfaProperty:description>Values for Journal Article Version are one of the following:
AO = Author’s Original
SMUR = Submitted Manuscript Under Review
AM = Accepted Manuscript
P = Proof
VoR = Version of Record
CVoR = Corrected Version of Record
EVoR = Enhanced Version of Record</pdfaProperty:description>
                           <pdfaProperty:name>journal_article_version</pdfaProperty:name>
                           <pdfaProperty:valueType>Closed Choice of Text</pdfaProperty:valueType>
                        </rdf:li>
                     </rdf:Seq>
                  </pdfaSchema:property>
               </rdf:li>
            </rdf:Bag>
         </pdfaExtension:schemas>
      <pdf:Producer>iText® 5.3.5 ©2000-2012 1T3XT BVBA (SPRINGER SBM; licensed version)</pdf:Producer></rdf:Description>
   </rdf:RDF>
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   Type: CRC32
  Checksum: 166e095529a629d228f16fea07cf299f
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