Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels.

abstract：:Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

journal_title：Molecular genetics and metabolism

authors： Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

更新日期：2020-02-01 00:00:00

abstract：:Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge. The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour ...

journal_title：Molecular genetics and metabolism

authors： Spaapen LJ,Rubio-Gozalbo ME

更新日期：2003-02-01 00:00:00

abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

更新日期：2008-04-01 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：:Maple syrup urine disease (MSUD) is a rare, autosomal-recessive disorder of branched-chain amino-acid metabolism. In the Philippines, many MSUD cases have been diagnosed clinically. Here, molecular analysis of the dihydrolipoyl transacylase (E2) gene was done in 13 unrelated families from the Philippines. A novel dele...

journal_title：Molecular genetics and metabolism

authors： Silao CL,Padilla CD,Matsuo M

更新日期：2004-02-01 00:00:00

abstract：:Solubilized A1 adenosine receptor (A1AR) was used to investigate the effect of several cations on agonist-binding characteristics and GTP hydrolysis. It was shown by Western blot with G beta-M14 that this preparation contains both G proteins and receptor. The role of the receptor molecule is to facilitate the activati...

journal_title：Molecular genetics and metabolism

authors： Minelli A,Allegrucci C,Rosati R,Mezzasoma I

更新日期：1998-03-01 00:00:00

abstract：:BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of norm...

journal_title：Molecular genetics and metabolism

authors： Okano Y,Takatori K,Kudo S,Sakaguchi T,Asada M,Kajiwara M,Yamano T

更新日期：2007-12-01 00:00:00

abstract：:Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of develop...

journal_title：Molecular genetics and metabolism

authors： Burrage LC,Tang S,Wang J,Donti TR,Walkiewicz M,Luchak JM,Chen LC,Schmitt ES,Niu Z,Erana R,Hunter JV,Graham BH,Wong LJ,Scaglia F

更新日期：2014-11-01 00:00:00

abstract：:The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. ...

journal_title：Molecular genetics and metabolism

authors： Sun A,Hopwood JJ,Thompson J,Cederbaum SD

更新日期：2011-06-01 00:00:00

abstract：:Enzyme replacement therapy (ERT) with intravenous recombinant human alpha-l-iduronidase (IV rhIDU) is a treatment for patients with mucopolysaccharidosis I (MPS I). Spinal cord compression develops in MPS I patients due in part to dural and leptomeningeal thickening from accumulated glycosaminoglycans (GAG). We tested...

journal_title：Molecular genetics and metabolism

authors： Dickson PI,Hanson S,McEntee MF,Vite CH,Vogler CA,Mlikotic A,Chen AH,Ponder KP,Haskins ME,Tippin BL,Le SQ,Passage MB,Guerra C,Dierenfeld A,Jens J,Snella E,Kan SH,Ellinwood NM

更新日期：2010-10-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

journal_title：Molecular genetics and metabolism

authors： Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

更新日期：2008-07-01 00:00:00

abstract：:Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

journal_title：Molecular genetics and metabolism

authors： Lai J,Vesprini D,Chu W,Jernström H,Narod SA

更新日期：2001-12-01 00:00:00

abstract：BACKGROUND:The etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. METHODS AND RESULTS:Here we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcino...

journal_title：Molecular genetics and metabolism

authors： Stender S,Chakrabarti RS,Xing C,Gotway G,Cohen JC,Hobbs HH

更新日期：2015-12-01 00:00:00

abstract：BACKGROUND:Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochon...

journal_title：Molecular genetics and metabolism

authors： Cosson L,Toutain A,Simard G,Kulik W,Matyas G,Guichet A,Blasco H,Maakaroun-Vermesse Z,Vaillant MC,Le Caignec C,Chantepie A,Labarthe F

更新日期：2012-05-01 00:00:00

abstract：:The acid phosphatase (ACP1) locus codes for a low molecular weight protein tyrosine phosphatase (LMPTP) that is found ubiquitously in human tissues. The *A allele of the ACP1 gene is associated with lower total enzymatic activity than the *B and *C alleles. An association between the *A allele and extreme values of bo...

journal_title：Molecular genetics and metabolism

authors： Bottini N,MacMurray J,Peters W,Rostamkhani M,Comings DE

更新日期：2002-11-01 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：:The Wnt pathway has been shown to play an important role in maintenance of stem cells and cell fate decisions in embryonic and adult stem cell populations. Activation of the Wnt pathway in mesenchymal stem cells and 3 T3-L1 cells inhibits adipogenesis and can lead to osteoblastogenesis. To evaluate the role of the Wnt...

journal_title：Molecular genetics and metabolism

authors： Van Camp JK,Beckers S,Zegers D,Verrijken A,Van Gaal LF,Van Hul W

更新日期：2012-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and explore the efficacy of idursulfase (recombinant human iduronate-2-sulfatase) treatment for mucopolysaccharidosis II (MPS II). STUDY DESIGN:Twelve patients were enrolled into a randomized, double-blind, placebo-controlled trial for 24 weeks followed by an open-label extension study...

journal_title：Molecular genetics and metabolism

authors： Muenzer J,Gucsavas-Calikoglu M,McCandless SE,Schuetz TJ,Kimura A

更新日期：2007-03-01 00:00:00

abstract：:Phenylalanine hydroxylase (PAH) deficiency, colloquially known as phenylketonuria (PKU), is among the most common inborn errors of metabolism and in the past decade has become a target for the development of novel therapeutics such as gene therapy. PAH deficient mouse models have been key to new treatment development,...

journal_title：Molecular genetics and metabolism

authors： Richards DY,Winn SR,Dudley S,Fedorov L,Rimann N,Thöny B,Harding CO

更新日期：2020-11-01 00:00:00

abstract：:Oxidative stress plays an important role in the pathophysiology of neurodegenerative diseases, including X-linked adrenoleukodystrophy (X-ALD). In the present work, we evaluated lipid (malondialdehyde [MDA] content) and protein (sulfhydryl and carbonyl contents) oxidative damage parameters in plasma from X-ALD patient...

journal_title：Molecular genetics and metabolism

authors： Rockenbach FJ,Deon M,Marchese DP,Manfredini V,Mescka C,Ribas GS,Habekost CT,Castro CG Jr,Jardim LB,Vargas CR

更新日期：2012-06-01 00:00:00

abstract：:Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were stud...

journal_title：Molecular genetics and metabolism

authors： Gaeta M,Barca E,Ruggeri P,Minutoli F,Rodolico C,Mazziotti S,Milardi D,Musumeci O,Toscano A

更新日期：2013-11-01 00:00:00

abstract：:Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), fr...

journal_title：Molecular genetics and metabolism

authors： Guglielmi V,Vattemi G,Gualandi F,Voermans NC,Marini M,Scotton C,Pegoraro E,Oosterhof A,Kósa M,Zádor E,Valente EM,De Grandis D,Neri M,Codemo V,Novelli A,van Kuppevelt TH,Dallapiccola B,van Engelen BG,Ferlini A,Tomell

更新日期：2013-09-01 00:00:00

abstract：:Since the 1950s, scientists have attempted to characterize the relationship between diabetes mellitus (DM) and the hypothalamic-pituitary-adrenal (HPA) axis. Similar complications are seen in patients with diabetes and Cushing's syndrome, leading some to suggest that an underlying abnormality in the HPA axis may be re...

journal_title：Molecular genetics and metabolism

authors： Powers JW,Mazilu JK,Lin S,McCabe ER

更新日期：2010-12-01 00:00:00

abstract：:The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...

journal_title：Molecular genetics and metabolism

authors： Gross-Hardt S,Reiss J

更新日期：2002-08-01 00:00:00

abstract：:Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

journal_title：Molecular genetics and metabolism

authors： Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

更新日期：2010-10-01 00:00:00

abstract：:Variants in the engulfment and cell motility 1 gene, ELMO1, have previously been associated with kidney disease attributed to type 2 diabetes. The Pima Indians of Arizona have high rates of diabetic nephropathy, which is strongly dependent on genetic determinants; thus, we sought to investigate the role of ELMO1 polym...

journal_title：Molecular genetics and metabolism

authors： Hanson RL,Millis MP,Young NJ,Kobes S,Nelson RG,Knowler WC,DiStefano JK

更新日期：2010-12-01 00:00:00

abstract：:In the present work we evaluated a variety of indicators of oxidative stress in distinct brain regions (striatum, cerebral cortex and hippocampus), the liver, and heart of 30-day-old glutaryl-CoA dehydrogenase deficient (Gcdh(-/-)) mice. The parameters evaluated included thiobarbituric acid-reactive substances (TBA-RS...

journal_title：Molecular genetics and metabolism

authors： Seminotti B,da Rosa MS,Fernandes CG,Amaral AU,Braga LM,Leipnitz G,de Souza DO,Woontner M,Koeller DM,Goodman S,Wajner M

更新日期：2012-05-01 00:00:00

abstract：:The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease. Here, we r...

journal_title：Molecular genetics and metabolism

authors： Brassier A,Ottolenghi C,Boutron A,Bertrand AM,Valmary-Degano S,Cervoni JP,Chrétien D,Arnoux JB,Hubert L,Rabier D,Lacaille F,de Keyzer Y,Di Martino V,de Lonlay P

更新日期：2013-05-01 00:00:00

abstract：BACKGROUND:Oxidative stress is involved in the pathophysiology of renal and cardiovascular complications of diabetes. Superoxide dismutase (SOD) enzymes play a major role in detoxification of reactive oxygen species and protection against oxidative stress. Associations of SOD1 gene variants with diabetic nephropathy we...

journal_title：Molecular genetics and metabolism

authors： Neves AL,Mohammedi K,Emery N,Roussel R,Fumeron F,Marre M,Velho G

更新日期：2012-07-01 00:00:00

abstract：:Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate ...

journal_title：Molecular genetics and metabolism

authors： Burlina AB,Ogier H,Korall H,Trefz FK

更新日期：2001-04-01 00:00:00