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2017 2
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Structural recognition and stabilization of tyrosine hydroxylase by the J-domain protein DNAJC12.
Tai MDS, Ochoa L, Flydal MI, Velasco-Carneros L, Muntaner J, Santiago C, Gamiz-Arco G, Moro F, Jung-Kc K, Gil-Cantero D, Marcilla M, Kallio JP, Muga A, Valpuesta JM, Cuéllar J, Martinez A. Tai MDS, et al. Nat Commun. 2025 Mar 20;16(1):2755. doi: 10.1038/s41467-025-57733-6. Nat Commun. 2025. PMID: 40113792 Free PMC article.
In this work, we characterize the formation of the TH:DNAJC12 complex, showing that DNAJC12 binding stabilizes both TH and the variant TH-p.R202H, associated with TH deficiency. This binding delays their time-dependent aggregation in an Hsp70-independent manner, whi …
In this work, we characterize the formation of the TH:DNAJC12 complex, showing that DNAJC12 binding stabilizes both TH and the variant TH-p. …
Human tyrosine hydroxylase in Parkinson's disease and in related disorders.
Nagatsu T, Nakashima A, Ichinose H, Kobayashi K. Nagatsu T, et al. J Neural Transm (Vienna). 2019 Apr;126(4):397-409. doi: 10.1007/s00702-018-1903-3. Epub 2018 Jul 11. J Neural Transm (Vienna). 2019. PMID: 29995172 Review.
However, this decrease in TH is thought to be secondary due to neurodegeneration of DA neurons caused by some as yet unidentified genetic and environmental factors, and thus, TH deficiency may not play a direct role in PD. This manuscript provides an overview of the …
However, this decrease in TH is thought to be secondary due to neurodegeneration of DA neurons caused by some as yet unidentified genetic an …
Imprinting of maternal thyroid hormones in the offspring.
Opazo MC, Haensgen H, Bohmwald K, Venegas LF, Boudin H, Elorza AA, Simon F, Fardella C, Bueno SM, Kalergis AM, Riedel CA. Opazo MC, et al. Int Rev Immunol. 2017 Jul 4;36(4):240-255. doi: 10.1080/08830185.2016.1277216. Epub 2017 Mar 8. Int Rev Immunol. 2017. PMID: 28272924 Review.
The function of CNS in the offspring gestated under TH deficiency will be irreversible impaired, causing low intellectual quotient, attention deficit, and mental retardation. On the other hand, little is known about the effects of TH deficiency in the …
The function of CNS in the offspring gestated under TH deficiency will be irreversible impaired, causing low intellectual quot …
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Bondarenko MS, Kuseyri Hübschmann O, Kulhánek J, Pons R, Pearson TS, Jeltsch K, Badnjarevic I, Wassenberg T, Horvath G, Stevanovic G, Kurian MA, Cortès-Saladelafont E, Roubertie A, Leuzzi V, Bertoldi M, Mastrangelo M, Assmann B; THD Guidelines Working Group; Garcia-Cazorla A, Opladen T. Bondarenko MS, et al. J Inherit Metab Dis. 2025 Nov;48(6):e70106. doi: 10.1002/jimd.70106. J Inherit Metab Dis. 2025. PMID: 41215497 Free PMC article.
Tyrosine hydroxylase (TH) catalyses the rate-limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central ne …
Tyrosine hydroxylase (TH) catalyses the rate-limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase …
Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?
Boelen A, Zwaveling-Soonawala N, Heijboer AC, van Trotsenburg ASP. Boelen A, et al. Eur Thyroid J. 2023 Jul 27;12(4):e230041. doi: 10.1530/ETJ-23-0041. Eur Thyroid J. 2023. PMID: 37326450 Free PMC article. Review.
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2-3 years of life, and the negative effects of TH deficiency on brain development are irreversible. Detection of TH deficiency early in life by neonatal screening …
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2-3 years of life, and the negative effects of …
Comparative approaches to understanding thyroid hormone regulation of neurogenesis.
Gothié JD, Demeneix B, Remaud S. Gothié JD, et al. Mol Cell Endocrinol. 2017 Dec 25;459:104-115. doi: 10.1016/j.mce.2017.05.020. Epub 2017 May 22. Mol Cell Endocrinol. 2017. PMID: 28545819 Review.
Thyroid hormone (TH) signalling, an evolutionary conserved pathway, is crucial for brain function and cognition throughout life, from early development to ageing. In humans, TH deficiency during pregnancy alters offspring brain development, increasing the risk of co …
Thyroid hormone (TH) signalling, an evolutionary conserved pathway, is crucial for brain function and cognition throughout life, from early …
Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.
Dong HY, Feng JY, Yue XJ, Shan L, Jia FY. Dong HY, et al. Medicine (Baltimore). 2020 Aug 14;99(33):e21753. doi: 10.1097/MD.0000000000021753. Medicine (Baltimore). 2020. PMID: 32872068 Free PMC article. Review.
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). ...DIAGNOSIS: The diagnosis of dopa-responsive dystonia caused by tyrosine hydroxylase deficiency was determined by whole exome sequencing. …
RATIONAL: Tyrosine hydroxylase deficiency (THD) is a rare cause of dopa-responsive dystonia (DRD). ...DIAGNOSIS: The di …
Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview.
Nagatsu T. Nagatsu T. J Neural Transm (Vienna). 2024 Jun;131(6):617-630. doi: 10.1007/s00702-023-02673-y. Epub 2023 Aug 28. J Neural Transm (Vienna). 2024. PMID: 37638996 Review.
Severe deficiencies in GCH1 or TH cause severe decreases in dopamine levels leading to severe neurological symptoms, whereas mild decreases in TH activity in mild GCH1 deficiency or in mild TH deficiency result in only modest reductions in dopamine levels and sympto …
Severe deficiencies in GCH1 or TH cause severe decreases in dopamine levels leading to severe neurological symptoms, whereas mild decreases …
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566885 Free PMC article. Review.
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. ...
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation …
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
Tristán-Noguero A, Fernández-Carasa I, Calatayud C, Bermejo-Casadesús C, Pons-Espinal M, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch R, Raya Á, García-Cazorla À, Consiglio A. Tristán-Noguero A, et al. EMBO Mol Med. 2023 Mar 8;15(3):e15847. doi: 10.15252/emmm.202215847. Epub 2023 Feb 6. EMBO Mol Med. 2023. PMID: 36740977 Free PMC article.
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset Parkinsonism. ...
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset Park …
39 results