NR0B1A: an alternatively spliced form of NR0B1.

abstract：:Mutations in the arylsulfatase E gene, located on the X chromosome, have been shown to cause chondrodysplasia punctata (CDP). A substitution of arginine with serine at amino acid 12 (R12S) was identified in a patient with typical features of mild symmetrical CDP including mild mental retardation. The proband was insti...

journal_title：Molecular genetics and metabolism

authors： Dahl HH,Osborn AH,Hutchison WM,Thorburn DR,Sheffield LJ

更新日期：1999-12-01 00:00:00

abstract：:Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not be...

journal_title：Molecular genetics and metabolism

authors： Hanchard NA,Shchelochkov OA,Roy A,Wiszniewska J,Wang J,Popek EJ,Karpen S,Wong LJ,Scaglia F

更新日期：2011-07-01 00:00:00

abstract：:Mucopolysaccharidosis (MPS) type VII is a lysosomal storage disease caused by deficiency of the lysosomal enzyme β-glucuronidase (GUS), leading to accumulation of glycosaminoglycans (GAGs). Enzyme replacement therapy (ERT) effectively clears GAG storage in the viscera. Recent studies showed that a chemically modified ...

journal_title：Molecular genetics and metabolism

authors： Rowan DJ,Tomatsu S,Grubb JH,Haupt B,Montaño AM,Oikawa H,Sosa AC,Chen A,Sly WS

更新日期：2012-09-01 00:00:00

abstract：:We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of allelic loss patterns in their tumors. Analysis of disease allele haplot...

journal_title：Molecular genetics and metabolism

authors： Emmert-Buck MR,Debelenko LV,Agarwal S,Kester MB,Manickam P,Zhuang Z,Guru SC,Olufemi SE,Burns AL,Chandrasekharappa SC,Lubensky IA,Liotta LA,Skarulis MC,Spiegel AM,Marx SJ,Collins FS

更新日期：1998-02-01 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：:This study describes the phenotype/genotype analyses of 56 probands with a juvenile onset, some of which had atypical features of neuronal ceroid lipofuscinosis, collected at the New York State Institute for Basic Research (IBR). In this group, we found probands with abundant curvilinear profiles in lysosomal storage ...

journal_title：Molecular genetics and metabolism

authors： Wisniewski KE,Kaczmarski A,Kida E,Connell F,Kaczmarski W,Michalewski MP,Moroziewicz DN,Zhong N

更新日期：1999-04-01 00:00:00

abstract：:Lung dysfunction is an important part of the pathology of the neurodegenerative disorder, Niemann-Pick C1 (NPC1). We have studied the pulmonary disease in the Npc1(NIH/NIH) mouse model. On histology, we find large numbers of alveolar foamy macrophages but no alveolar proteinosis. Lung weight as percent of body weight ...

journal_title：Molecular genetics and metabolism

authors： Muralidhar A,Borbon IA,Esharif DM,Ke W,Manacheril R,Daines M,Erickson RP

更新日期：2011-06-01 00:00:00

abstract：:Fabry disease is a lysosomal storage disease caused by deficient activity of the α-Galactosidase A (α-Gal A) enzyme, which leads to abnormal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosome. Glycosphingolipids are known to be invariant Natural Killer T (iNKT) cell antigens. Sever...

journal_title：Molecular genetics and metabolism

authors： Macedo MF,Quinta R,Pereira CS,Sa Miranda MC

更新日期：2012-05-01 00:00:00

abstract：:Mucolipidosis type II (ML II) is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features. ML II results from mutations in alpha and beta subunits, encoded by the GlcNAc-1-phosphotransferase gene (GNPTAB). Most of the 40 different GNPTAB mutations reported so fa...

journal_title：Molecular genetics and metabolism

authors： Tappino B,Regis S,Corsolini F,Filocamo M

更新日期：2008-02-01 00:00:00

abstract：BACKGROUND:Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients. Sapropterin functions as a cof...

journal_title：Molecular genetics and metabolism

authors： Douglas TD,Jinnah HA,Bernhard D,Singh RH

更新日期：2013-07-01 00:00:00

abstract：:Mucopolysaccharidoses (MPS) are caused by deficiency of lysosomal enzyme activities needed to degrade glycosaminoglycans (GAGs), which are long unbranched polysaccharides consisting of repeating disaccharides. GAGs include: chondroitin sulfate (CS), dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS), an...

journal_title：Molecular genetics and metabolism

authors： Tomatsu S,Fujii T,Fukushi M,Oguma T,Shimada T,Maeda M,Kida K,Shibata Y,Futatsumori H,Montaño AM,Mason RW,Yamaguchi S,Suzuki Y,Orii T

更新日期：2013-09-01 00:00:00

abstract：:Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults. The exact biochemical mechanisms underlying this neurotoxicity remain undetermined. Several theories implicate abnormal cerebral energy utilization an...

journal_title：Molecular genetics and metabolism

authors： Wasserstein MP,Snyderman SE,Sansaricq C,Buchsbaum MS

更新日期：2006-03-01 00:00:00

abstract：:We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes. The method employs glycogen and 4-methylumbelliferyl-alpha-D-glucopyranoside (4MU-alphaGlc) as substrates for measuring the lysosomal acid alpha-glucosidas...

journal_title：Molecular genetics and metabolism

authors： Okumiya T,Keulemans JL,Kroos MA,Van der Beek NM,Boer MA,Takeuchi H,Van Diggelen OP,Reuser AJ

更新日期：2006-05-01 00:00:00

abstract：:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic man...

journal_title：Molecular genetics and metabolism

authors： Scarpa M,Lourenço CM,Amartino H

更新日期：2017-12-01 00:00:00

abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity...

journal_title：Molecular genetics and metabolism

authors： Meyer E,Kurian MA,Morgan NV,McNeill A,Pasha S,Tee L,Younis R,Norman A,van der Knaap MS,Wassmer E,Trembath RC,Brueton L,Maher ER

更新日期：2011-12-01 00:00:00

abstract：:The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

journal_title：Molecular genetics and metabolism

authors： McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

更新日期：1999-03-01 00:00:00

abstract：:Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes...

journal_title：Molecular genetics and metabolism

authors： Mkaouar-Rebai E,Chamkha I,Kammoun F,Kammoun T,Aloulou H,Hachicha M,Triki C,Fakhfakh F

更新日期：2009-07-01 00:00:00

abstract：:In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

journal_title：Molecular genetics and metabolism

authors： Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

更新日期：2001-01-01 00:00:00

abstract：:Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...

journal_title：Molecular genetics and metabolism

authors： Boles RG,Stone ML

更新日期：2006-12-01 00:00:00

abstract：:Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. GH treatment improves the profile of many cardiovascular risk markers in individuals with GH deficiency (GHD). The aim of the present was to assess whether GH replacement may decrease plasma total homocysteine, an indep...

journal_title：Molecular genetics and metabolism

authors： Lewandowski KC,Murray RD,Drzewoski J,O'Callaghan CJ,Czupryniak L,Hillhouse EW,Shalet SM,Randeva HS

更新日期：2003-11-01 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：:We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin ...

journal_title：Molecular genetics and metabolism

authors： Jäggi L,Zurflüh MR,Schuler A,Ponzone A,Porta F,Fiori L,Giovannini M,Santer R,Hoffmann GF,Ibel H,Wendel U,Ballhausen D,Baumgartner MR,Blau N

更新日期：2008-03-01 00:00:00

abstract：:Therapeutic chaperone effect of a valienamine derivative N-octyl 4-epi-β-valienamine (NOEV) was studied in G(M1)-gangliosidosis model mice. Phamacokinetic analysis revealed rapid intestinal absorption and renal excretion after oral administration. Intracellular accumulation was not observed after continuous treatment....

journal_title：Molecular genetics and metabolism

authors： Suzuki Y,Ichinomiya S,Kurosawa M,Matsuda J,Ogawa S,Iida M,Kubo T,Tabe M,Itoh M,Higaki K,Nanba E,Ohno K

更新日期：2012-05-01 00:00:00

abstract：:Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...

journal_title：Molecular genetics and metabolism

authors： Masson E,Le Maréchal C,Levy P,Chuzhanova N,Ruszniewski P,Cooper DN,Chen JM,Férec C

更新日期：2007-09-01 00:00:00

abstract：:Sequence capture enrichment (SCE) strategies and massively parallel next generation sequencing (NGS) are expected to increase the rate of gene discovery for genetically heterogeneous hereditary diseases, but at present, there are very few examples of successful application of these technologic advances in translationa...

journal_title：Molecular genetics and metabolism

authors： Raca G,Jackson C,Warman B,Bair T,Schimmenti LA

更新日期：2010-06-01 00:00:00

abstract：:Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone (T3) caused by mutations in the thyroid hormone receptor beta (TRbeta). The index patient of the family reported here, a 17-year-old woman, came to medical attention because of a diffuse goiter, short statu...

journal_title：Molecular genetics and metabolism

authors： Furlanetto TW,Kopp P,Peccin S,Gu WX,Jameson JL

更新日期：2000-11-01 00:00:00

abstract：:Reported is a female patient with methionine adenosyltransferase I/III (MAT I/III) deficiency, who was found to have pronounced hypermethioninemia on newborn mass spectroscopy screening, and had two compound heterozygous missense mutations in the gene encoding human MAT1A protein. Hypermethioninemia persisted and her ...

journal_title：Molecular genetics and metabolism

authors： Furujo M,Kinoshita M,Nagao M,Kubo T

更新日期：2012-03-01 00:00:00

abstract：:We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 ...

journal_title：Molecular genetics and metabolism

authors： Stockler-Ipsiroglu S,van Karnebeek C,Longo N,Korenke GC,Mercimek-Mahmutoglu S,Marquart I,Barshop B,Grolik C,Schlune A,Angle B,Araújo HC,Coskun T,Diogo L,Geraghty M,Haliloglu G,Konstantopoulou V,Leuzzi V,Levtova A,Mack

更新日期：2014-01-01 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：:Carnitine-acylcarnitine translocase (CATR) deficiency is a severe defect in fatty acid oxidation which presents early in life most frequently with hypoglycemia, hyperammonemia, and severe cardiac abnormalities. CATR exchanges acylcarnitines of various chain lengths for free carnitine across the mitochondrial membrane....

journal_title：Molecular genetics and metabolism

authors： Roe DS,Roe CR,Brivet M,Sweetman L

更新日期：2000-01-01 00:00:00