Results 51 to 60 of about 73,449 (206)

DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate‐Dependent Activation

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
Substrate‐induced activation of PAH by L‐Phe involves dimerization of its regulatory domains (RD), with L‐Phe binding in the dimeric RD interface. The J‐domain protein DNAJC12 binds this activated conformation, stabilizing PAH and delaying aggregation, while reducing the substrate concentration required for activation.
Mary Dayne S. Tai, Trond‐André Kråkenes, Gloria Gamiz‐Arco, Christer F. Didriksen, Juha P. Kallio, Marte I. Flydal, Fernando Moro, Aurora Martinez   +7 more
wiley   +1 more source

Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria [PDF]

, 2017
Insufficient treatment adherence after early childhood is frequently observed in patients with phenylketonuria. Assessment of these individuals' long-term metabolic control could enable early detection of the risk of intellectual deterioration resulting ...
Didycz, Bożena, Bik-Multanowski, Mirosław, Mirosław Bik-Multanowski, Bożena Didycz   +3 more
core   +2 more sources

Table1_Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.DOCX

, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Zailan Yang (13036608), Yun Chen (279569), Kaiyu Liu (309766), Hao Zhou (136535), Yaozhou Wang (11423599)   +4 more
core   +1 more source

Mapping the Severity of Phenylalanine Hydroxylase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema, E. M. van Steenis, C. M. A. Lubout, M. R. Heiner‐Fokkema, J. Zschocke, F. J. van Spronsen   +5 more
wiley   +1 more source

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies

, 2012
Background: Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD).
Wim CJ Hop, Duvekot, J.J., Hop, Wim C.J., Babette W Prick, Prick, Babette, Hop, Johannes J Duvekot   +6 more
core   +1 more source

Video3_Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.MP4

, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Zailan Yang (13036608), Yun Chen (279569), Kaiyu Liu (309766), Hao Zhou (136535), Yaozhou Wang (11423599)   +4 more
core   +1 more source

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

, 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   +9 more
core   +1 more source

Synthesis of 6β-N(5)-Methyl-5,6,7,8-tetrahydro-L-biopterin

Pteridines, 1993
Summary 6β-N(5)-methyl-5.6J,8-tetrahydro-L-biopterin·2 HC1. a new derivate of biological interest, was synthesized from 6β-5,6,7,8-tetrahydro-L-biopteril·2 HC1 and characterized.
Bosshard Rene, Heizmann Claus W., Viscontini Max   +2 more
doaj   +1 more source

Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

Molecular Genetics & Genomic Medicine, 2020
Background Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12‐associated HPA is a rare in Chinese population so far.
Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan   +5 more
doaj   +1 more source

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

JIMD Reports, 2022
Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to study the ...
Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair   +6 more
doaj   +1 more source