Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

Blau, Nenad; Scherer‐Oppliger, Tanja; Baumer, Alessandra; Riegel, Mariluce; Matasović, A.; Schinzel, Albert; Jaeken, Jaak; Thöny, Beat

doi:10.1002/1098-1004(200007)16:1<54::aid-humu10>3.0.co;2-c

Cited by 12 publications

(9 citation statements)

References 32 publications

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“…Zhang et al 11 revealed that the expression level of GCH1 in red skin of crucian carp was markedly higher than in black skin. PTS is a key cofactor for various enzymes in the pteridine synthesis pathway, including aromatic amino acid hydroxylases, and H4biopterin produced by GCH1 is converted into 6-pyruvoyltetrahydropterin by PTS 21 , 22 . In the case of inherited PTS deficiency, H4biopterin stores are depleted 21 .…”

Section: Discussionmentioning

confidence: 99%

“…PTS is a key cofactor for various enzymes in the pteridine synthesis pathway, including aromatic amino acid hydroxylases, and H4biopterin produced by GCH1 is converted into 6-pyruvoyltetrahydropterin by PTS 21 , 22 . In the case of inherited PTS deficiency, H4biopterin stores are depleted 21 . QDPR serves as another cofactor that is responsible for the regeneration of H4biopterin from quinoid dihydrobiopterin (qBH2) 23 .…”

Section: Discussionmentioning

confidence: 99%

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Analysis of yellow mutant rainbow trout transcriptomes at different developmental stages reveals dynamic regulation of skin pigmentation genes

Huang

et al. 2022

Sci Rep

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Yellow mutant rainbow trout (YR), an economically important aquaculture species, is popular among consumers due to its excellent meat quality and attractive appearance. Skin color is a key economic trait for YR, but little is known about the molecular mechanism of skin color development. In this study, YR skin transcriptomes were analyzed to explore temporal expression patterns of pigmentation-related genes in three different stages of skin color development. In total, 16,590, 16,682, and 5619 genes were differentially expressed between fish at 1 day post-hatching (YR1d) and YR45d, YR1d and YR90d, and YR45d and YR90d. Numerous differentially expressed genes (DEGs) associated with pigmentation were identified, and almost all of them involved in pteridine and carotenoid synthesis were significantly upregulated in YR45d and YR90d compared to YR1d, including GCH1, PTS, QDPR, CSFIR1, SLC2A11, SCARB1, DGAT2, PNPLA2, APOD, and BCO2. Interestingly, many DEGs enriched in melanin synthesis pathways were also significantly upregulated, including melanogenesis (MITF, MC1R, SLC45A2, OCA2, and GPR143), tyrosine metabolism (TYR, TYRP1, and DCT), and MAPK signaling (KITA) pathways. Using short time-series expression miner, we identified eight differential gene expression pattern profiles, and DEGs in profile 7 were associated with skin pigmentation. Protein–protein interaction network analysis showed that two modules were related to xanthophores and melanophores. In addition, 1,812,329 simple sequence repeats and 2,011,334 single-nucleotide polymorphisms were discovered. The results enhance our understanding of the molecular mechanism underlying skin pigmentation in YR, and could accelerate the molecular breeding of fish species with valuable skin color traits and will likely be highly informative for developing new therapeutic approaches to treat pigmentation disorders and melanoma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Analysis of yellow mutant rainbow trout transcriptomes at different developmental stages reveals dynamic regulation of skin pigmentation genes

Huang

et al. 2022

Sci Rep

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“…The patient inherited a mutant maternal allele which was unmasked by a de novo chromosomal deletion that included the normal paternal allele. Deficiency of 6‐pyruvoyl‐tetrahydropterin synthase was also reported to be unmasked by a de novo chromosomal deletion spanning 11q14‐11q23.3 [Blau et al, 2000]. Other mechanisms may also unmask a recessive allele, with uniparental disomy being most commonly reported [Zlotogora, 2004].…”

Section: Discussionmentioning

confidence: 99%

Fractionated crystallization and self‐nucleation behavior of poly(ethylene oxide) in its miscible blends with poly(3‐hydroxybutyrate)

Pan

Zhu

et al. 2010

J of Applied Polymer Sci

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ABSTRACT:The fractionated crystallization and selfnucleation behavior of poly(ethylene oxide) (PEO) component in the miscible PEO/poly(3-hydroxybutyrate) (PHB) binary blends were investigated using differential scanning calorimetry (DSC) and small-angle X-ray diffraction (SAXS) under different crystallization conditions. The distribution of PEO component in the PEO/PHB blend greatly influences its fractionated crystallization behavior. The active heterogeneities, on which the semicrystalline components in the molten state can nucleate at a small supercooling, are favored to locate out of the interlamellar regions of PHB crystals during the crystallization of PHB component. The PEO component confined in the interlamellar regions of PHB crystals crystallizes at an extremely large supercooling, which is induced by the homogeneous nucleation or less active heterogeneities, while the PEO component expelled out of the interlamellar regions of PHB crystals can crystallize at a small supercooling due to the nucleation induced by active heterogeneities. In addition, the self-nucleation behavior of PEO component in the PEO/PHB blend is also affected by the active heterogeneities and the distribution of PEO phase in the blend. Different from the block copolymer systems, the PEO component confined into the interlamellar regions of PHB crystals can not be selfnucleated in the PEO/PHB blend without a nucleating agent (NA).

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“…This is an unusual finding in PTPS deficiency, only rarely reported to date. 14 –16 These observations suggest the possible existence of a third form of PTPS deficiency (“central-only”), which may elude newborn screening for hyperphenylalaninemia.…”

Section: Discussionmentioning

confidence: 99%

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

et al. 2015

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Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69 patients affected by movement disorders of unknown etiology. Abnormal results were disclosed in 13/69 subjects (19%). Both primary and secondary monoamine neurotransmitter disorders were observed. The clinical presentation of both forms was hypokinetic-rigid syndrome or dystonia. L-Dopa treatment resulted in significant improvement of the clinical picture in the majority of primary neurotransmitter disorders. Eight patients presented a secondary neurotransmitter disorder. One suffered from a GM2 gangliosidosis and one from infantile bilateral striatal necrosis. Etiologic diagnoses were not established in the others. L-Dopa was started in four patients, leading to a significant improvement of hypokinesia in the patient suffering from GM2 gangliosidosis and a slight improvement in 3 unclassified patients.

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Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

Cited by 12 publications

References 32 publications

Analysis of yellow mutant rainbow trout transcriptomes at different developmental stages reveals dynamic regulation of skin pigmentation genes

Analysis of yellow mutant rainbow trout transcriptomes at different developmental stages reveals dynamic regulation of skin pigmentation genes

Fractionated crystallization and self‐nucleation behavior of poly(ethylene oxide) in its miscible blends with poly(3‐hydroxybutyrate)

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

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