Results 71 to 80 of about 107,475 (169)

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi   +2 more
wiley   +1 more source

Understanding Parkinson disease in Spain: Genetic and clinical insights

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background and purpose Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of environmental and genetic factors. This study aimed to investigate genetic variants associated with PD and assess their impact on the disease phenotype ...
Pilar Gómez‐Garre, Miguel Martín‐Bórnez, Laura Muñoz‐Delgado, Rafael Díaz‐Belloso, María Teresa Periñán, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Daniel Macías‐García, Silvia Jesús, Astrid Adarmes‐Gómez, Elena Ojeda, Antonio Luque‐Ambrosiani, Sergio García‐Díaz, Rocío Pineda Sánchez, Fátima Carrillo, Pablo Mir   +15 more
wiley   +1 more source

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Global Medical Genetics
We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142.
Janhawi Kelkar, Miriam DiMaio, Deqiong Ma, Hui Zhang   +3 more
doaj   +1 more source

Control of pteridine biosynthesis in the natural killer-like cell line YT.

, 1991
The natural killer-like cell line YT constitutively expresses GTP-cyclohydrolase activity whereas 6-pyruvoyltetrahydropterin synthase and sepiapterin reductase are absent.
Yodoi, J., Schwulera, U., Schott, K., Ziegler, I.   +3 more
core   +1 more source

Regulation of tetrahydrobiopterin synthesis during lectin stimulation of human peripheral blood lymphocytes

, 1989
Lectin stimulation of human T lymphocytes causes a 7-fold increase in the specific activities of GTP-cyclohydrolase and a 4-fold increase in the specific activities of sepiapterin reductase.
Adelbert Bacher, Kerler, F., Ziegler, I., Bruno Schwarzkopf, Schwarzkopf, B., Irmgard Ziegler, Bacher, A., Franz Kerler   +7 more
core   +1 more source

Endothelial deficiency of sepiapterin reductase in hypertension and its impact on sepiapterin as an eNOS‐recoupling agent

The FASEB Journal, 2006
DOCA salt‐induced hypertension is associated with oxidation of tetrahydrobiopterin (H4B) and uncoupling of eNOS. We sought to examine whether administration of H4B precursor sepiapterin restores eNOS function. Bioavailable NO detected by electron spin resonance (ESR) was markedly reduced in aortas of DOCA‐salt hypertensive mice.
John Blair, Jeong‐Ho Oak, David Harrison, Hua “Linda” Cai   +3 more
openaire   +1 more source

Sepiapterin reductase (Spra and Sprb) regulate carotenoid and pteridine metabolism influencing the koi carp (Cyprinus carpio L.) coloration

Aquaculture Reports
The evolution of teleost coloration is strongly linked with the fish-specific genome duplication (FSGD). Sepiapterin reductase (Spr) is commonly required in pteridine pigment synthesis and two paralogs are found in teleosts.
X. Tian, Y.S. Shan, N.N. Peng, X. Ma, X. Shi, H. Li, X.J. Li, X.L. Meng   +7 more
doaj   +1 more source

Sepiapterin reductase inhibitors

Inhibitors of sepiapterin reductase and uses of sepiapterin reductase inhibitors in analgesia, treatment of acute and chronic pain, anti-inflammation, and immune cell regulation are disclosed.AVP-R-TTOLIPAlternative title(s) : (de) Heteroarylderivate ...
Gorska, Katarzyna Irena, Johnsson, Kai Peter, Meniconi, Mirco, Bromidge, Steven Mark, Kerry, Mark, Peng, Hairuo, Saiah, Eddine, Mccall, John Michael, Atton, Holly Victoria, Kotey, Adrian Kotei, Monck, Nathaniel J, Avery, Craig, Tebbe, Mark Joseph, Ridgill, Mark Peter, Tye, Heather   +14 more
core  

Northern blot analysis of sepiapterin reductase mRNA in mammalian cell lines and tissues.

, 1993
Recent evidence has shown that H4biopterin is synthesized in cells which undergo cytokine-directed proliferation and do not use H4biopterin as a hydroxylation cofactor.
Maier, J., Adelbert Bacher, Schott, K., Ziegler, I., Werner, T., Josef Maier, Irmgard Ziegler, Bacher, A., Thomas Werner, Karin Schott   +9 more
core   +1 more source

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

, 2001
Classic tetrahydrobiopterin (BH4) deficiencies are characterized by hyperphenylalaninemia and deficiency of monoamine neurotransmitters. In this article, we report two patients with progressive psychomotor retardation, dystonia, severe dopamine and ...
Nenad Blau, Beat Thöny, Penzien, Johann M., Bonafé, Luisa, Thöny, Beat, Czarnecki, Barbara, Blau, Nenad, Luisa Bonafé, Johann M. Penzien, Barbara Czarnecki, Czarnecki, B., Blau, N., Penzien, J. M., Thony, B., Bonafe, L.   +14 more
core   +1 more source