Nadia Skauli

• Banitalebi, Shervin; Skauli, Nadia; Geiseler, Samuel; Ottersen, Ole Petter & Amiry-Moghaddam, Mahmood (2022). Disassembly and Mislocalization of AQP4 in Incipient Scar Formation after Experimental Stroke. International Journal of Molecular Sciences. ISSN 1661-6596. 23(3). doi: 10.3390/ijms23031117.
• Rao, Shreyas Balachandra; Skauli, Nadia; Jovanovic, Nenad; Katoozi, Shirin; Frigeri, Antonio & Froehner, Stanley C. [Show all 9 contributors for this article] (2021). Orchestrating aquaporin-4 and connexin-43 expression in brain: Differential roles of α1- and β1-syntrophin. Biochimica et Biophysica Acta - Biomembranes. ISSN 0005-2736. 1863(8), p. 1–14. doi: 10.1016/j.bbamem.2021.183616.
• Katoozi, Shirin; Skauli, Nadia; Rahmani, Soulmaz; Deshpande, Tushar; Ezan, Pascal & Palazzo, Claudia [Show all 11 contributors for this article] (2020). Uncoupling of the Astrocyte Syncytium Differentially Affects AQP4 Isoforms. Cells. ISSN 2073-4409. doi: 10.3390/cells9020382. Full text in Research Archive
• Katoozi, Shirin; Shreyas, Rao; Skauli, Nadia; Froehner, Stanley C.; Ottersen, Ole Petter & Adams, Marv [Show all 7 contributors for this article] (2020). Functional specialization of retinal Müller cell endfeet depends on an interplay between two syntrophin isoforms. Molecular Brain. ISSN 1756-6606. 13. doi: 10.1186/s13041-020-00581-w. Full text in Research Archive
• Prydz, Agnete; Stahl, Katja; Rahmani, Soulmaz; Skauli, Nadia; Skare, Øivind & Ottersen, Ole Petter [Show all 7 contributors for this article] (2020). Pro-inflammatory role of AQP4 in mice subjected to intrastriatal injections of the Parkinsonogenic toxin MPP. Cells. ISSN 2073-4409. 9:2418(11). doi: 10.3390/cells9112418. Full text in Research Archive
• Rao, Shreyas Balachandra; Katoozi, Shirin; Skauli, Nadia; Froehner, Stanley C.; Ottersen, Ole Petter & Adams, Marvin E. [Show all 7 contributors for this article] (2019). Targeted deletion of β1-syntrophin causes a loss of Kir 4.1 from Müller cell endfeet in mouse retina . Glia. ISSN 0894-1491. 67(6), p. 1138–1149. doi: 10.1002/glia.23600. Full text in Research Archive
• Stahl, Katja; Rahmani, Soulmaz; Prydz, Agnete; Skauli, Nadia; MacAulay, Nanna & Mylonakou, Maria-Niki [Show all 13 contributors for this article] (2018). Targeted deletion of the aquaglyceroporin AQP9 is protective in a mouse model of Parkinson's disease. PLOS ONE. ISSN 1932-6203. 13(3). doi: 10.1371/journal.pone.0194896. Full text in Research Archive
• Katoozi, Shirin; Skauli, Nadia; Rahmani, Soulmaz; Camassa, Laura Maria Azzurra; Boldt, Henning Bunsow & Ottersen, Ole Petter [Show all 7 contributors for this article] (2017). Targeted deletion of Aqp4 promotes the formation of astrocytic gap junctions. Brain Structure and Function. ISSN 1863-2653. p. 1–14. doi: 10.1007/s00429-017-1448-5.
• Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Show all 10 contributors for this article] (2016). Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes. ISSN 2073-4425. 7(12). doi: 10.3390/genes7120108. Show summary

  Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

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