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In vivo proteomics identifies the competence regulon and AliB oligopeptide transporter as pathogenic factors in pneumococcal meningitis.
Schmidt F, Kakar N, Meyer TC, Depke M, Masouris I, Burchhardt G, Gómez-Mejia A, Dhople V, Håvarstein LS, Sun Z, Moritz RL, Völker U, Koedel U, Hammerschmidt S. Schmidt F, et al. Among authors: kakar n. PLoS Pathog. 2019 Jul 29;15(7):e1007987. doi: 10.1371/journal.ppat.1007987. eCollection 2019 Jul. PLoS Pathog. 2019. PMID: 31356624 Free PMC article.
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P. Kakar N, et al. Hum Genet. 2025 Jan;144(1):55-65. doi: 10.1007/s00439-024-02718-6. Epub 2024 Dec 21. Hum Genet. 2025. PMID: 39708122 Free PMC article.
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: kakar n. Nat Genet. 2024 Jun;56(6):1080-1089. doi: 10.1038/s41588-024-01719-5. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684900
65 results