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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. Among authors: von elsner l. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K. Meyer Zum Büschenfelde U, et al. Among authors: von elsner l. PLoS Genet. 2018 May 7;14(5):e1007370. doi: 10.1371/journal.pgen.1007370. eCollection 2018 May. PLoS Genet. 2018. PMID: 29734338 Free PMC article.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Among authors: von elsner l. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency.
Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS. Knapp KM, et al. Among authors: von elsner l. Eur J Hum Genet. 2021 Jul;29(7):1110-1120. doi: 10.1038/s41431-021-00839-4. Epub 2021 Mar 2. Eur J Hum Genet. 2021. PMID: 33654309 Free PMC article.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K. Schneeberger PE, et al. Among authors: von elsner l. Am J Hum Genet. 2020 Dec 3;107(6):1044-1061. doi: 10.1016/j.ajhg.2020.10.007. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159882 Free PMC article.
Binding of Clostridium botulinum C3 exoenzyme to intact cells.
Rohrbeck A, von Elsner L, Hagemann S, Just I. Rohrbeck A, et al. Among authors: von elsner l. Naunyn Schmiedebergs Arch Pharmacol. 2014 Jun;387(6):523-32. doi: 10.1007/s00210-014-0963-7. Epub 2014 Mar 2. Naunyn Schmiedebergs Arch Pharmacol. 2014. PMID: 24584821
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