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Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S, Richter P, Yuan Y, Welzel K, Kube M, Bähr S, Leibner A, Flory E, Opladen T. Jung-Klawitter S, et al. Among authors: richter p. J Inherit Metab Dis. 2024 May;47(3):517-532. doi: 10.1002/jimd.12690. Epub 2023 Dec 12. J Inherit Metab Dis. 2024. PMID: 38084654
Circulating collagen breakdown products as a biomarker for presence and instability of human intracranial aneurysms.
Hackenberg KA, Richter P, Hetjens S, Dreier R, Ratliff T, Akanji O, Dremel J, Abdulazim A, Al Masalmeh I, Alzghloul M, Neumaier-Probst E, Groden C, Chou SH, Rinkel GJ, Etminan N. Hackenberg KA, et al. Among authors: richter p. Eur Stroke J. 2024 Nov 16:23969873241300057. doi: 10.1177/23969873241300057. Online ahead of print. Eur Stroke J. 2024. PMID: 39548882 Free PMC article.
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
822 results