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. Fulltekst i vitenarkiv
• Rao, Shreyas Balachandra; Skauli, Nadia; Jovanovic, Nenad; Katoozi, Shirin; Frigeri, Antonio & Froehner, Stanley C. [Vis alle 9 forfattere av denne artikkelen] (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), s. 1–14. doi: 10.1016/j.bbamem.2021.183616.
• Katoozi, Shirin; Skauli, Nadia; Rahmani, Soulmaz; Deshpande, Tushar; Ezan, Pascal & Palazzo, Claudia [Vis alle 11 forfattere av denne artikkelen] (2020). Uncoupling of the Astrocyte Syncytium Differentially Affects AQP4 Isoforms. Cells. ISSN 2073-4409. doi: 10.3390/cells9020382. Fulltekst i vitenarkiv
• Katoozi, Shirin; Shreyas, Rao; Skauli, Nadia; Froehner, Stanley C.; Ottersen, Ole Petter & Adams, Marv [Vis alle 7 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
• Prydz, Agnete; Stahl, Katja; Rahmani, Soulmaz; Skauli, Nadia; Skare, Øivind & Ottersen, Ole Petter [Vis alle 7 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
• Rao, Shreyas Balachandra; Katoozi, Shirin; Skauli, Nadia; Froehner, Stanley C.; Ottersen, Ole Petter & Adams, Marvin E. [Vis alle 7 forfattere av denne artikkelen] (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), s. 1138–1149. doi: 10.1002/glia.23600. Fulltekst i vitenarkiv
• Stahl, Katja; Rahmani, Soulmaz; Prydz, Agnete; Skauli, Nadia; MacAulay, Nanna & Mylonakou, Maria-Niki [Vis alle 13 forfattere av denne artikkelen] (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. Fulltekst i vitenarkiv
• Katoozi, Shirin; Skauli, Nadia; Rahmani, Soulmaz; Camassa, Laura Maria Azzurra; Boldt, Henning Bunsow & Ottersen, Ole Petter [Vis alle 7 forfattere av denne artikkelen] (2017). Targeted deletion of Aqp4 promotes the formation of astrocytic gap junctions. Brain Structure and Function. ISSN 1863-2653. s. 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 [Vis alle 10 forfattere av denne artikkelen] (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. Vis sammendrag

  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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