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：:We recently reported that PAF acetylhydrolase (PAF-Ah) mRNA level and PAF-Ah activity in lamb lungs are up-regulated in the immediate newborn period, thereby facilitating the fall in postnatal PAF levels as well as a fall in pulmonary vascular resistance (B. O. Ibe, F. C. Sardar, and J. U. Raj, Mol Genet Metab 69:46-5...

journal_title：Molecular genetics and metabolism

authors： Ibe BO,Pham HH,Kääpä P,Raj JU

更新日期：2001-11-01 00:00:00

abstract：:Propionyl-CoA carboxylase (PCC, EC 6.4.1.3) is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is compos...

journal_title：Molecular genetics and metabolism

authors： Campeau E,Desviat LR,Leclerc D,Wu X,Pérez B,Ugarte M,Gravel RA

更新日期：2001-09-01 00:00:00

abstract：:The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine whic...

journal_title：Molecular genetics and metabolism

authors： Lahjouji K,Mitchell GA,Qureshi IA

更新日期：2001-08-01 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：:Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR, and pterin-4-alpha-carbinolamine dehydratase, PCD) required for recycling of its cofactor, tetrahydrobiopterin (BH(4)), cause other rarer diseas...

journal_title：Molecular genetics and metabolism

authors： Waters PJ,Scriver CR,Parniak MA

更新日期：2001-07-01 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：:Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity, but may be complicated in ca...

journal_title：Molecular genetics and metabolism

authors： Whitfield PD,Sharp PC,Johnson DW,Nelson P,Meikle PJ

更新日期：2001-05-01 00:00:00

abstract：:Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different r...

journal_title：Molecular genetics and metabolism

authors： Lindner M,Haas D,Mayatepek E,Zschocke J,Burgard P

更新日期：2001-05-01 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

abstract：:Severe neurological deficits and mental retardation are frequently associated with disrupted ganglioside metabolism in a variety of gangliosidoses and lysosomal storage disorders. Accumulation of glycosphingolipids (GSLs) in the central nervous system (CNS) of humans and animals affected with several types of mucopoly...

journal_title：Molecular genetics and metabolism

authors： Liour SS,Jones MZ,Suzuki M,Bieberich E,Yu RK

更新日期：2001-03-01 00:00:00

abstract：:The oral contraceptive pill is associated with a modest increase in the risk of early-onset breast cancer in the general population, but it is possible that the risk is higher in certain subgroups of women. The relative risk of breast cancer associated with oral contraceptive use has been reported to be higher for Afr...

journal_title：Molecular genetics and metabolism

authors： Jernström H,Chu W,Vesprini D,Tao Y,Majeed N,Deal C,Pollak M,Narod SA

更新日期：2001-02-01 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：:We report here the isolation, characterization, and chromosomal localization of the genes encoding the human and corresponding murine orthologue of solute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-amino-acid residue protein with a predicted molecular weight of 56 kDa that shares sequence simil...

journal_title：Molecular genetics and metabolism

authors： Eudy JD,Spiegelstein O,Barber RC,Wlodarczyk BJ,Talbot J,Finnell RH

更新日期：2000-12-01 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：:Self-organization of living cells results from the tangle of positive and negative feedback developed to ensure their homeostasis and/or their differentiation. There are three major means cellular regulation operates: the genetic, the epigenetic, and the metabolic ones. The regulation type in each of them has been ove...

journal_title：Molecular genetics and metabolism

authors： Roux-Rouquie M

更新日期：2000-09-01 00:00:00

abstract：:Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have ...

journal_title：Molecular genetics and metabolism

authors： Adams PC

更新日期：2000-09-01 00:00:00

abstract：:Neuronal ceroid lipofuscinoses (NCL) form a distinct group of storage diseases where the normal development of the central nervous system is interrupted and neurons of the neocortex begin to degenerate. Mutations in genes encoding three lysosomal enzymes are the causes for three early-onset forms of NCLs: palmitoyl-pr...

journal_title：Molecular genetics and metabolism

authors： Suopanki J,Partanen S,Ezaki J,Baumann M,Kominami E,Tyynelä J

更新日期：2000-09-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 gene from the highly homologous CYP21P pseudogene. For this, several di...

journal_title：Molecular genetics and metabolism

authors： Lee HH,de Wijs IJ,Sistermans EA

更新日期：2000-08-01 00:00:00

abstract：:Pompe disease is a generalized lysosomal glycogenosis affecting essentially the skeletal muscles and the heart. It is due to the deficiency of acid alpha-glucosidase, also called acid maltase, involved in glycogen degradation by the cleavage of alpha-1,4 and alpha-1,6 glycosidic linkages. The severe infantile, milder ...

journal_title：Molecular genetics and metabolism

authors： Poenaru L

更新日期：2000-07-01 00:00:00

abstract：:The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not...

journal_title：Molecular genetics and metabolism

authors： Fernández-Moreno MA,Bornstein B,Campos Y,Arenas J,Garesse R

更新日期：2000-07-01 00:00:00

abstract：:p53, perhaps the single most important human tumor suppressor, is commonly mutated in human cancers. Normally genotoxic stress and hypoxia activate p53, which, through DNA-specific transcription activation, transcriptional repression, and protein-protein interactions, triggers cell cycle arrest and apoptosis. One of t...

journal_title：Molecular genetics and metabolism

authors： Grimberg A

更新日期：2000-06-01 00:00:00

abstract：:Neural tube defects (NTDs) are multifactorial in their etiology, having both genetic and environmental factors contributing to their development. Recent evidence demonstrates that periconceptional supplementation of the maternal diet with a multivitamin containing folic acid significantly reduces the occurrence and re...

journal_title：Molecular genetics and metabolism

authors： Barber R,Shalat S,Hendricks K,Joggerst B,Larsen R,Suarez L,Finnell R

更新日期：2000-05-01 00:00:00

abstract：:Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegat...

journal_title：Molecular genetics and metabolism

authors： Corrigall AV,Hift RJ,Davids LM,Hancock V,Meissner D,Kirsch RE,Meissner PN

更新日期：2000-04-01 00:00:00

abstract：:Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

journal_title：Molecular genetics and metabolism

authors： Wetzel GT,Ding S,Chen F

更新日期：2000-03-01 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：: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

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：:Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expressio...

journal_title：Molecular genetics and metabolism

authors： Anderson RA,Bryson GM,Parks JS

更新日期：1999-11-01 00:00:00

abstract：:Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing...

journal_title：Molecular genetics and metabolism

authors： Perrault I,Rozet JM,Gerber S,Ghazi I,Leowski C,Ducroq D,Souied E,Dufier JL,Munnich A,Kaplan J

更新日期：1999-10-01 00:00:00

abstract：:Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, easy bruisability, and bleeding as a result of deficient platelet dense bodies, and recurrent infections, with neutropenia, impaired chemotaxis and bactericidal activity, and abnormal NK ...

journal_title：Molecular genetics and metabolism

authors： Introne W,Boissy RE,Gahl WA

更新日期：1999-10-01 00:00:00

abstract：:Activation of fatty acids, catalyzed by acyl-coenzyme A (acyl-CoA) synthetases, is required for their subsequent metabolism. Peroxisomes and microsomes contain very-long-chain acyl-CoA synthetases (VLCSs) capable of activating fatty acids with a chain length of 22 or more carbons. Decreased peroxisomal VLCS activity i...

journal_title：Molecular genetics and metabolism

authors： Steinberg SJ,Wang SJ,McGuinness MC,Watkins PA

更新日期：1999-09-01 00:00:00

abstract：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

journal_title：Molecular genetics and metabolism

authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

更新日期：1999-08-01 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：:Erythropoietin (Epo), a glycoprotein hormone produced principally in the fetal kidney and in the adult liver in response to hypoxia, is the prime regulator of growth and differentiation in erythroid progenitor cells. The regulation of Epo gene expression is not fully understood, but two mechanisms have been proposed. ...

journal_title：Molecular genetics and metabolism

authors： Daghman NA,McHale CM,Savage GM,Price S,Winter PC,Maxwell AP,Lappin TR

更新日期：1999-06-01 00:00:00

abstract：:We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

journal_title：Molecular genetics and metabolism

authors： Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

更新日期：1999-05-01 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：:Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingol...

journal_title：Molecular genetics and metabolism

authors： Goebel HH,Schochet SS,Jaynes M,Brück W,Kohlschütter A,Hentati F

更新日期：1999-04-01 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：: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