Results 71 to 80 of about 553,208 (143)

Sepiapterin reductase 결핍에 대한 생쥐 모델

, 2006
학위논문(박사) - 한국과학기술원 : 생명과학과, 2006.2, [ vii, 116 p. ]Tetrahydrobiopterin $(BH_4)$ is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, phenylalanine-4-hydroxylase, tryptophan-5-hydroxylase, tyrosine-3 ...
양승경, Yang, Seung-Kyoung
core  

Neurological Involvement in Tetrahydrobiopterin Deficiency

, 2016
Tetrahydrobiopterin (BH4) is a natural and essential cofactor for the enzymatic hydroxylation of phenylalanine (Phe) and tyrosine (Tyr), and for two tryptophan hydroxylases, three nitric oxide synthases, and glyceryl-ethermonooxygenase.
Concolino D., Polizzi A., Procopio D., Falvo F., Ceravolo F., Ruggieri M., Grisolia M., Ferraro S., Salpietro V., Mascaro I., Leone G., Salpietro V, Polizzi A, RUGGIERI, MARTINO, Mascaro I, Falvo F, Ceravolo F, Leone G, Moricca MT, Ferraro S, Procopio D   +20 more
core   +1 more source

Is the priapism of sepiapterin reductase-deficient mice caused by nitric oxide overproduction ?

Proceedings for Annual Meeting of The Japanese Pharmacological Society, 2022
Chiho Sumi-Ichinose, Yui Suganuma, Taiki Kano, Kazuhisa Ikemoto, Noriko Ihira, Hiroshi Ichinose, Kazunao Kondo   +6 more
openaire   +1 more source

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia [PDF]

, 2017
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes.
Kuhlenbäumer, G, Rösler, TW, Opladen, T, Salama, M, Deuschl, G, Müller, U, Hopfner, F, Höglinger, GU, Franke, A, Shalash, AS, Müller, SH, Petersen, B-S   +11 more
core  

Dopa-responsive dystonia due to sepiapterin reductase deficiency [PDF]

, 2020
openaire   +1 more source

Optimization and Validation of Plasma-Based Assay for Detection and Quantification of Monoamine Neurotransmitter Metabolites Using LC-MS/MS. [PDF]

ACS Omega
Tauro L, C G K, Singh N, Gowda VK, Mishra RK, Hamid R.   +5 more
europepmc   +1 more source

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

, 2023
openaire   +1 more source

Structural and mechanistic insights into the divergence of pterin deaminase and sepiapterin deaminase. [PDF]

Appl Microbiol Biotechnol
Shanmuganathan N, Manikandan S, Johnson J, Balasubramani S, Jayaraman A, Paleri S, Ranjith T, A TP.   +7 more
europepmc   +1 more source

Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India. [PDF]

Orphanet J Rare Dis
Hamid R, Gowda VK, Tauro L, Mishra R.
europepmc   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source