The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

abstract：:Derivatives of 4-methylumbelliferone (4MU) are favorite substrates for the measurement of lysosomal enzyme activities in a wide variety of cell and tissue specimens. Hydrolysis of these artificial substrates at acidic pH leads to the formation of 4-methylumbelliferone, which is highly fluorescent at a pH above 10. Whe...

journal_title：Molecular genetics and metabolism

authors： Oemardien LF,Boer AM,Ruijter GJ,van der Ploeg AT,de Klerk JB,Reuser AJ,Verheijen FW

更新日期：2011-01-01 00:00:00

abstract：BACKGROUND:Flow-injection MS/MS methods for elevated acylcarnitines are routinely performed in most newborn screening and biochemical genetics laboratories; however this technique cannot distinguish between isobaric compounds; therefore, chromatographic separation is required to quantitate isomers for differential diag...

journal_title：Molecular genetics and metabolism

authors： Forni S,Fu X,Palmer SE,Sweetman L

更新日期：2010-09-01 00:00:00

abstract：:Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of...

journal_title：Molecular genetics and metabolism

authors： Oishi K,Hirai T,Gelb BD,Diaz GA

更新日期：2001-06-01 00:00:00

abstract：:Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known...

journal_title：Molecular genetics and metabolism

authors： Ahrens-Nicklas R,Schlotawa L,Ballabio A,Brunetti-Pierri N,De Castro M,Dierks T,Eichler F,Ficicioglu C,Finglas A,Gaertner J,Kirmse B,Klepper J,Lee M,Olsen A,Parenti G,Vossough A,Vanderver A,Adang LA

更新日期：2018-03-01 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：:Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygou...

journal_title：Molecular genetics and metabolism

authors： Schirinzi A,Centra M,Prattichizzo C,Gigante M,De Fabritiis M,Giancaspro V,Petrarulo F,Santacroce R,Margaglione M,Gesualdo L,Ranieri E

更新日期：2008-07-01 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：:To elucidate the interference mechanisms of valproate (VPA) with mitochondrial fatty acid beta-oxidation (FAO), the profile of acylcarnitine formation was studied in vitro. Human fibroblasts were incubated with 0.2 mmol/L [U-(13)C]palmitate, 0.4 mmol/L l-carnitine, +/- VPA (2 mmol/L) (96 h at 37 degrees C). Acylcarnit...

journal_title：Molecular genetics and metabolism

authors： Silva MF,Jakobs C,Duran M,de Almeida IT,Wanders RJ

更新日期：2001-08-01 00:00:00

abstract：:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

journal_title：Molecular genetics and metabolism

authors： Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

更新日期：2001-11-01 00:00:00

abstract：:The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

journal_title：Molecular genetics and metabolism

authors： Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

更新日期：2008-08-01 00:00:00

abstract：:Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. Electron microscopy studies of both DMC chondrocytes and fibroblasts reveal an enlarged endoplasmic reticulum net...

journal_title：Molecular genetics and metabolism

authors： Paupe V,Gilbert T,Le Merrer M,Munnich A,Cormier-Daire V,El Ghouzzi V

更新日期：2004-09-01 00:00:00

abstract：BACKGROUND:The number of newborns and the number of disorders detected by large-scale screening programs has increased dramatically in the last decade. Newborn screening is a multi-step process requiring confirmatory testing to establish and refine a diagnosis. Whereas screening cutoffs are established to detect all ca...

journal_title：Molecular genetics and metabolism

authors： Oladipo OO,Weindel AL,Saunders AN,Dietzen DJ

更新日期：2011-12-01 00:00:00

abstract：:A high homocysteine phenotype, often accompanied by low folate, is associated with several pathologies including cardiovascular disease and birth defects. This phenotype appears to be influenced by both genetic and environmental factors, which may act in a sex-dependent manner. The present analyses were undertaken to ...

journal_title：Molecular genetics and metabolism

authors： Stanisławska-Sachadyn A,Woodside JV,Brown KS,Young IS,Murray L,McNulty H,Strain JJ,Boreham CA,Scott JM,Whitehead AS,Mitchell LE

更新日期：2008-04-01 00:00:00

abstract：:Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. I...

journal_title：Molecular genetics and metabolism

authors： Miller MJ,Soler-Alfonso CR,Grund JE,Fang P,Sun Q,Elsea SH,Sutton VR

更新日期：2014-07-01 00:00:00

abstract：:The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in fatal hepatopathy caused by mutations in mitochondrial translation factor EFG1. M...

journal_title：Molecular genetics and metabolism

authors： Bykhovskaya Y,Mengesha E,Fischel-Ghodsian N

更新日期：2007-06-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespread gag storage and leads to severe CNS degeneration and mild somatic ...

journal_title：Molecular genetics and metabolism

authors： Roberts AL,Rees MH,Klebe S,Fletcher JM,Byers S

更新日期：2007-09-01 00:00:00

abstract：:A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propion...

journal_title：Molecular genetics and metabolism

authors： Mochel F,DeLonlay P,Touati G,Brunengraber H,Kinman RP,Rabier D,Roe CR,Saudubray JM

更新日期：2005-04-01 00:00:00

abstract：:The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

journal_title：Molecular genetics and metabolism

authors： Morimoto K,Lin S,Sakamoto K

更新日期：2007-04-01 00:00:00

abstract：:Elevated plasma concentration of total homocysteine (tHcy) has been linked with many diseases. tHcy is associated with a variety of factors, including polymorphisms in genes involved in homocysteine metabolism. It is not clear whether US-mandated fortification of grain products with folic acid has affected the associa...

journal_title：Molecular genetics and metabolism

authors： Tsai MY,Loria CM,Cao J,Kim Y,Siscovick DS,Schreiner PJ,Hanson NQ

更新日期：2009-09-01 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 report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome anal...

journal_title：Molecular genetics and metabolism

authors： Bianciardi L,Imperatore V,Fernandez-Vizarra E,Lopomo A,Falabella M,Furini S,Galluzzi P,Grosso S,Zeviani M,Renieri A,Mari F,Frullanti E

更新日期：2016-11-01 00:00:00

abstract：:Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons wi...

journal_title：Molecular genetics and metabolism

authors： Li L,Eng C,Desnick RJ,German J,Ellis NA

更新日期：1998-08-01 00:00:00

abstract：:Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better under...

journal_title：Molecular genetics and metabolism

authors： El-Hattab AW,Zarante AM,Almannai M,Scaglia F

更新日期：2017-11-01 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：: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：RATIONALE:We previously reported that mitogen-activated protein kinase phosphatase-1 (MKP-1) expression is necessary for oxidized phospholipids to induce monocyte chemoattractant protein-1 (MCP-1) secretion by human aortic endothelial cells. We also reported that inhibition of tyrosine phosphatases including MKP-1 amel...

journal_title：Molecular genetics and metabolism

authors： Imaizumi S,Grijalva V,Priceman S,Wu L,Su F,Farias-Eisner R,Hama S,Navab M,Fogelman AM,Reddy ST

更新日期：2010-09-01 00:00:00

abstract：:We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing. Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients...

journal_title：Molecular genetics and metabolism

authors： Davit-Spraul A,Costa C,Zater M,Habes D,Berthelot J,Broué P,Feillet F,Bernard O,Labrune P,Baussan C

更新日期：2008-08-01 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：:The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 ...

journal_title：Molecular genetics and metabolism

authors： Pearce DA,Sherman F

更新日期：1999-04-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the cysteine-rich protein (CRP) family and has been implicat...

journal_title：Molecular genetics and metabolism

authors： Mohapatra B,Jimenez S,Lin JH,Bowles KR,Coveler KJ,Marx JG,Chrisco MA,Murphy RT,Lurie PR,Schwartz RJ,Elliott PM,Vatta M,McKenna W,Towbin JA,Bowles NE

更新日期：2003-09-01 00:00:00