SM LeVine, S Tsau, S Gunewardena - Brain Sciences, 2023 - mdpi.com
The involvement of iron in the pathogenesis of Alzheimer's disease (AD) may be multifaceted. Besides potentially inducing oxidative damage, the bioavailability of iron may …
K Jung‐kc, A Tristán‐Noguero… - Journal of Inherited …, 2024 - Wiley Online Library
Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants …
B Scafuri, A Verdino, N D'Arminio… - Briefings in …, 2022 - academic.oup.com
Pharmacological chaperones are chemical compounds able to bind proteins and stabilize them against denaturation and following degradation. Some pharmacological chaperones …
G Nygaard, PD Szigetvari, AK Grindheim… - Journal of Personalized …, 2021 - mdpi.com
Dopa-responsive dystonia (DRD) is a rare movement disorder associated with defective dopamine synthesis. This impairment may be due to the fact of a deficiency in GTP …
PD Szigetvari, G Muruganandam… - Journal of …, 2019 - Wiley Online Library
Tyrosine hydroxylase (TH) is a multi‐domain, homo‐oligomeric enzyme that catalyses the rate‐limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of …
G Korner, D Noain, M Ying, M Hole, MI Flydal… - Brain, 2015 - academic.oup.com
Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate-limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine …
CA Madeira, C Anselmo, JM Costa, CA Bonito… - … et Biophysica Acta (BBA …, 2023 - Elsevier
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of MCAD …
MI Flydal, TA Kråkenes, MDS Tai, MPA Tran, K Teigen… - Biochimie, 2021 - Elsevier
Tyrosine hydroxylase (TH) catalyses the (6 R)-L-erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4)- dependent conversion of L-tyrosine to L-3, 4-dihydroxyphenylalanine (L-Dopa), which is the …
P Brennecke, D Rasina, O Aubi… - … Life Sciences R&D, 2019 - journals.sagepub.com
Compound screening in biological assays and subsequent optimization of hits is indispensable for the development of new molecular research tools and drug candidates. To …