Results 31 to 40 of about 2,204 (208)

Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability. [PDF]

PLoS ONE
Tyrosinase, a copper-containing oxidase, plays a vital role in the melanin biosynthesis pathway. Mutations in the tyrosinase gene can disrupt the hydroxylation of tyrosine, leading to decreased production of 3,4-dihydroxyphenylalanine (DOPA ...
Wei Fan, Heng Li Ji, Mohibullah Kakar, Shabbir Ahmed, Hussah M Alobaid, Yasmeen Shakir   +5 more
doaj   +2 more sources

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

The Turkish Journal of Pediatrics, 2015
Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients.
Özlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri   +8 more
doaj   +3 more sources

Sapropterin for phenylketonuria: A Japanese post‐marketing surveillance study [PDF]

Pediatrics International, 2021
AbstractBackgroundThe aim of this study was to assess the long‐term safety and efficacy of sapropterin in a real‐world setting in Japanese patients with tetrahydrobiopterin (BH4)‐responsive phenylketonuria.MethodsThis post‐marketing surveillance study enrolled all of the patients in Japan with confirmed BH4‐responsive PKU who were administrated ...
Mina Tamura, Shizuka Seki, Yasuyuki Kakurai, Shuichi Chikada, Kento Wada   +4 more
openalex   +5 more sources

Sapropterin (BH4) Aggravates Autoimmune Encephalomyelitis in Mice [PDF]

Neurotherapeutics, 2021
Depletion of the enzyme cofactor, tetrahydrobiopterin (BH4), in T-cells was shown to prevent their proliferation upon receptor stimulation in models of allergic inflammation in mice, suggesting that BH4 drives autoimmunity. Hence, the clinically available BH4 drug (sapropterin) might increase the risk of autoimmune diseases.
Sandra Trautmann, Caroline Fischer, Gerd Geisslinger, Gerd Geisslinger, Yannick Schreiber, Yannick Schreiber, Irmgard Tegeder, Ernst R. Werner, Lisa Hahnefeld, Katja Schmitz, Dominique Thomas, Robert Gurke, Robert Gurke, Katrin Watschinger, Annett Wilken-Schmitz, Sabine Wicker, Robert Brunkhorst   +16 more
openaire   +5 more sources

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect [PDF]

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +2 more sources

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

Orphanet Journal of Rare Diseases, 2021
Background During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalanine hydroxylase ...
Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch   +12 more
doaj   +1 more source

Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Molecular Genetics and Metabolism, 2015
The Phenylketonuria (PKU) Demographics, Outcomes and Safety (PKUDOS) registry is designed to provide longitudinal safety and efficacy data on subjects with PKU who are (or have been) treated with sapropterin dihydrochloride. The PKUDOS population consists of 1189 subjects with PKU: N = 504 who were continuously exposed to sapropterin from date of ...
Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Fıçıcıoğlu, Susan Parker, Jessica Cohen‐Pfeffer   +6 more
openalex   +4 more sources

Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary study [PDF]

Translational Psychiatry, 2013
Sapropterin, a synthetic form of tetrahydrobiopterin (BH4), has been reported to improve symptoms in children with autism spectrum disorder (ASD). However, as BH4 is involved in multiple metabolic pathway that have been found to be dysregulated in ASD, including redox, pterin, monoamine neurotransmitter, nitric oxide (NO) and immune metabolism, the ...
Richard E. Frye, R DeLaTorre, H Taylor, John M. Slattery, Stepan Melnyk, Nilanjana Roy Chowdhury, S. Jill James   +6 more
openalex   +4 more sources

Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness

Children, 2021
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin ...
Huey-Fen Chen, Angela M. Rose, Susan Waisbren, Ayesha Ahmad, Lisa A. Prosser   +4 more
doaj   +1 more source

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

Frontiers in Bioengineering and Biotechnology, 2022
Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source