Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test.

abstract：:Screening for mutations in the low density lipoprotein receptor (LDLR) gene has identified more than 1000 mutations as the cause of familial hypercholesterolemia (FH). In addition, numerous intronic mutations with uncertain effects on pre-mRNA splicing have also been identified. In this study, we have selected 18 intr...

journal_title：Molecular genetics and metabolism

authors： Holla ØL,Nakken S,Mattingsdal M,Ranheim T,Berge KE,Defesche JC,Leren TP

更新日期：2009-04-01 00:00:00

abstract：:Oxidative metabolism of glucose is regulated by pyruvate dehydrogenase (PDH) that can be inhibited by isoforms of PDH kinase (PDK). Recently, increased PDK activity has been implicated in the pathogenesis of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) in obese subjects. Using quantitative RT...

journal_title：Molecular genetics and metabolism

authors： Majer M,Popov KM,Harris RA,Bogardus C,Prochazka M

更新日期：1998-10-01 00:00:00

abstract：:Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into prim...

journal_title：Molecular genetics and metabolism

authors： Rodriguez-Pombo P,Pérez-Cerdá C,Desviat LR,Pérez B,Ugarte M,Rodríguez-Pombo P

更新日期：2002-03-01 00:00:00

abstract：:We have isolated a few cDNAs from different human tissues, transcribed from the first intron of HIRA, a gene deleted in the DiGeorge syndrome. These cDNAs are produced by an intronic gene (22k48) which is transcribed by the HIRA opposite strand and is itself arranged in exons and subjected to alternative splicing. The...

journal_title：Molecular genetics and metabolism

authors： Pizzuti A,Novelli G,Ratti A,Amati F,Bordoni R,Mandich P,Bellone E,Conti E,Bengala M,Mari A,Silani V,Dallapiccola B

更新日期：1999-07-01 00:00:00

abstract：:The insulin-like growth factor I receptor (IGF-I-R) has an important role in breast cancer etiology. The receptor is overexpressed by most breast cancers, where it functions as a potent antiapoptotic agent. BRCA1 is a tumor suppressor gene that is mutated in a large fraction of familial breast and ovarian cancers. Cot...

journal_title：Molecular genetics and metabolism

authors： Maor SB,Abramovitch S,Erdos MR,Brody LC,Werner H

更新日期：2000-02-01 00:00:00

abstract：:We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencin...

journal_title：Molecular genetics and metabolism

authors： Santra S,Cameron JM,Shyr C,Zhang L,Drögemöller B,Ross CJ,Wasserman WW,Wevers RA,Rodenburg RJ,Gupte G,Preece MA,van Karnebeek CD

更新日期：2016-05-01 00:00:00

abstract：INTRODUCTION:Telomeres may be considered markers of biological aging, shorter telomere length is associated with some age-related diseases; in several studies short telomere length has also been associated to obesity in adults and adolescents. However the relationship between telomere complex functions and obesity is s...

journal_title：Molecular genetics and metabolism

authors： Carulli L,Anzivino C,Baldelli E,Zenobii MF,Rocchi MB,Bertolotti M

更新日期：2016-06-01 00:00:00

abstract：:SLC2A2 encoding glucose transporter -2 (GLUT2) acts as the primary glucose transporter and sensor in rodent pancreatic islets and is widely assumed to play a similar role in humans. In healthy adults SLC2A2 variants are associated with elevated fasting plasma glucose (fpg) concentrations but physiological characterisa...

journal_title：Molecular genetics and metabolism

authors： McCulloch LJ,van de Bunt M,Braun M,Frayn KN,Clark A,Gloyn AL

更新日期：2011-12-01 00:00:00

abstract：:Inherited defects in glutaryl-CoA dehydrogenase cause the neurometabolic disease, glutaric acidemia type I. Five of over 80 mutations that have been identified are located in a carboxyl-terminal domain. The five mutations were generated by site directed mutagenesis and expressed in Escherichia coli. The mutant dehydro...

journal_title：Molecular genetics and metabolism

authors： Westover JB,Goodman SI,Frerman FE

更新日期：2003-08-01 00:00:00

abstract：BACKGROUND:While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain. METHODS:Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I,...

journal_title：Molecular genetics and metabolism

authors： Lin HY,Chuang CK,Chen MR,Lin SM,Hung CL,Chang CY,Chiu PC,Tsai WH,Niu DM,Tsai FJ,Lin SJ,Hwu WL,Lin JL,Lin SP

更新日期：2016-04-01 00:00:00

abstract：:Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more v...

journal_title：Molecular genetics and metabolism

authors： Hollak CE,de Sonnaville ES,Cassiman D,Linthorst GE,Groener JE,Morava E,Wevers RA,Mannens M,Aerts JM,Meersseman W,Akkerman E,Niezen-Koning KE,Mulder MF,Visser G,Wijburg FA,Lefeber D,Poorthuis BJ

更新日期：2012-11-01 00:00:00

abstract：:Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

journal_title：Molecular genetics and metabolism

authors： Komen JC,Duran M,Wanders RJ

更新日期：2005-07-01 00:00:00

abstract：:Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 l...

journal_title：Molecular genetics and metabolism

authors： Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusébio F,Gaspar A,Sequeira S,Amorim A,Prata MJ

更新日期：2010-08-01 00:00:00

abstract：INTRODUCTION:Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibili...

journal_title：Molecular genetics and metabolism

authors： Thimmapuram R,Bandettini WP,Shanbhag SM,Yu JH,O'Brien KJ,Gahl WA,Introne WJ,Chen MY

更新日期：2020-08-01 00:00:00

abstract：:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by se...

journal_title：Molecular genetics and metabolism

authors： Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

更新日期：2015-11-01 00:00:00

abstract：:Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mit...

journal_title：Molecular genetics and metabolism

authors： Dembic M,Andersen HS,Bastin J,Doktor TK,Corydon TJ,Sass JO,Lopes Costa A,Djouadi F,Andresen BS

更新日期：2019-01-01 00:00:00

abstract：:The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

journal_title：Molecular genetics and metabolism

authors： Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

更新日期：2016-06-01 00:00:00

abstract：:McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency, which leads to a severe limitation in the rate of adenosine triphosphate (ATP) resynthesis. Compensatory flux through the myoadenylate deaminase > > xanthine oxidase pathway should result in higher oxidative stress in skeletal muscle; how...

journal_title：Molecular genetics and metabolism

authors： Kitaoka Y,Ogborn DI,Nilsson MI,Mocellin NJ,MacNeil LG,Tarnopolsky MA

更新日期：2013-11-01 00:00:00

abstract：OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

journal_title：Molecular genetics and metabolism

authors： Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

更新日期：2009-07-01 00:00:00

abstract：:This report compares statistical models based on molecular and inferred haplotypes of the human paraoxonase-1 gene (PON1). In a study of 402 women comprising three race/ethnicities, 137 women had ambiguous inferred haplotypes. The inferred haplotypes (the one with highest posterior probability) for 20 of these women d...

journal_title：Molecular genetics and metabolism

authors： Wallenstein S,Chen J,Wetmur JG

更新日期：2006-11-01 00:00:00

abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer significant multisystem...

journal_title：Molecular genetics and metabolism

authors： Fuller M,Mellett N,Hein LK,Brooks DA,Meikle PJ

更新日期：2015-02-01 00:00:00

abstract：:The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory insufficiency. Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter -2 (hRFT-2) and s...

journal_title：Molecular genetics and metabolism

authors： Nabokina SM,Subramanian VS,Said HM

更新日期：2012-04-01 00:00:00

abstract：BACKGROUND:Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported t...

journal_title：Molecular genetics and metabolism

authors： Duley JA,Henman MG,Carpenter KH,Bamshad MJ,Marshall GA,Ooi CY,Wilcken B,Pinner JR

更新日期：2016-09-01 00:00:00

abstract：:Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used h...

journal_title：Molecular genetics and metabolism

authors： Blundell J,Frisson S,Chakrapani A,Gissen P,Hendriksz C,Vijay S,Olson A

更新日期：2018-02-01 00:00:00

abstract：:The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fund...

journal_title：Molecular genetics and metabolism

authors： Nyhan WL

更新日期：2005-09-01 00:00:00

abstract：:In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were ide...

journal_title：Molecular genetics and metabolism

authors： Rani AQ,Malueka RG,Sasongko TH,Awano H,Lee T,Yagi M,Zilfalil BA,Salmi AB,Takeshima Y,Zabidi-Hussin ZA,Matsuo M

更新日期：2011-07-01 00:00:00

abstract：:Pompe disease is an inherited metabolic, neuromuscular disorder. With the introduction of enzyme replacement therapy skeletal muscle and respiratory function can be stabilized or improved. Additional physiotherapy to advance physical functioning of patients might be beneficial, but evidence and guidelines are lacking....

journal_title：Molecular genetics and metabolism

authors： Favejee MM,Huisstede BM,Bussmann JB,Kruijshaar ME,van der Ploeg AT

更新日期：2012-09-01 00:00:00

abstract：:Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

journal_title：Molecular genetics and metabolism

authors： Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

更新日期：2019-04-01 00:00:00

abstract：:Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developm...

journal_title：Molecular genetics and metabolism

authors： Levy B,Wang D,Ullner PM,Engelstad K,Yang H,Nahum O,Chung WK,De Vivo DC

更新日期：2010-06-01 00:00:00

abstract：BACKGROUND:The long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU. METHODS:We investigated 35 patients with early-treated classical PKU aged 2...

journal_title：Molecular genetics and metabolism

authors： Feldmann R,Osterloh J,Onon S,Fromm J,Rutsch F,Weglage J

更新日期：2019-03-01 00:00:00