SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
<h3>Objective</h3> <p>To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding <i>SERAC1</i> to the increasing number of complex lipid cHSP genes.&...
Gespeichert in:
| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2018
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| In: |
Neurogenetics
Year: 2017, Jahrgang: 55, Heft: 1, Pages: 39-47 |
| ISSN: | 1364-6753 |
| DOI: | 10.1136/jmedgenet-2017-104622 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmedgenet-2017-104622 Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/55/1/39 
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| Verfasserangaben: | Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M. Vaz, Saskia B. Wortmann, Thorsten Marquardt, Tobias B. Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik |
| Zusammenfassung: | <h3>Objective</h3> <p>To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding <i>SERAC1</i> to the increasing number of complex lipid cHSP genes.</p><h3>Methods</h3> <p>Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family. |
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| Beschreibung: | Published online first: 15 September 2017 Gesehen am 14.04.2020 |
| Beschreibung: | Online Resource |
| ISSN: | 1364-6753 |
| DOI: | 10.1136/jmedgenet-2017-104622 |