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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: van der ven pfm. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study.
Schaiter A, Hentschel A, Kleefeld F, Schuld J, Umathum V, Procida-Kowalski T, Nelke C, Roth A, Hahn A, Krämer HH, Ruck T, Horvath R, van der Ven PFM, Bartkuhn M, Roos A, Schänzer A. Schaiter A, et al. Among authors: van der ven pfm. Sci Rep. 2024 Oct 3;14(1):22965. doi: 10.1038/s41598-024-74913-4. Sci Rep. 2024. PMID: 39362957 Free PMC article.
Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane traffic.
Ottensmeyer J, Esch A, Baeta H, Sieger S, Gupta Y, Rathmann MF, Jeschke A, Jacko D, Schaaf K, Schiffer T, Rahimi B, Lövenich L, Sisto A, van der Ven PFM, Fürst DO, Haas A, Bloch W, Gehlert S, Hoffmann B, Timmerman V, Huesgen PF, Höhfeld J. Ottensmeyer J, et al. Among authors: van der ven pfm. Curr Biol. 2024 Sep 23;34(18):4170-4183.e9. doi: 10.1016/j.cub.2024.07.088. Epub 2024 Aug 23. Curr Biol. 2024. PMID: 39181128 Free article.
Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
Umathum V, Weber A, Amsel D, Alexopoulos I, Becker C, Roth A, Günther A, Selignow C, Ritschel N, Nishimura A, Schaiter A, Németh A, van der Ven PFM, Acker T, Schänzer A. Umathum V, et al. Among authors: van der ven pfm. Brain Pathol. 2024 Jan;34(1):e13176. doi: 10.1111/bpa.13176. Epub 2023 Jun 2. Brain Pathol. 2024. PMID: 37265023 Free PMC article. No abstract available.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Elsnicova B, Hornikova D, Tibenska V, Kolar D, Tlapakova T, Schmid B, Mallek M, Eggers B, Schlötzer-Schrehardt U, Peeva V, Berwanger C, Eberhard B, Durmuş H, Schultheis D, Holtzhausen C, Schork K, Marcus K, Jordan J, Lücke T, van der Ven PFM, Schröder R, Clemen CS, Zurmanova JM. Elsnicova B, et al. Among authors: van der ven pfm. Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020. Int J Mol Sci. 2022. PMID: 36233322 Free PMC article.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß A, Hentschel A, Heil L, Gonzalez M, Schönecker A, Depienne C, Nishimura A, Zengeler D, Kohlschmidt N, Sickmann A, Schara-Schmidt U, Fürst DO, van der Ven PFM, Hahn A, Roos A, Schänzer A. Gangfuß A, et al. Among authors: van der ven pfm. Mol Genet Metab. 2022 Jul;136(3):226-237. doi: 10.1016/j.ymgme.2022.05.005. Epub 2022 May 29. Mol Genet Metab. 2022. PMID: 35660068
79 results