Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women.

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：:A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at cod...

journal_title：Molecular genetics and metabolism

authors： Legarda M,Wlodarczyk K,Lage S,Andrade F,Kim GJ,Bausch E,Scherer G,Aldamiz-Echevarria LJ

更新日期：2011-11-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CAC) deficiency is a rare autosomal recessive disorder of long-chain fatty acid oxidation with a severe outcome. We report mutation analysis in a cohort of 12 patients. Twelve mutations were identified of which 9 have not been reported so far (G28C, D32N, R178Q, P230R, D231H, 179de...

journal_title：Molecular genetics and metabolism

authors： Costa C,Costa JM,Slama A,Boutron A,Vequaud C,Legrand A,Brivet M

更新日期：2003-01-01 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：:Ruminant placental lactogens (PLs) are structurally related to prolactins (PRLs) and growth hormones (GHs) and are secreted by placentae. Ruminant PLs are unusual in their capacity to bind and activate PRL and GH receptors (Rs) from other species. The present minireview summarizes several works showing that unlike in ...

journal_title：Molecular genetics and metabolism

authors： Gertler A,Djiane J

更新日期：2002-03-01 00:00:00

abstract：:Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physic...

journal_title：Molecular genetics and metabolism

authors： Wilcken B

更新日期：2004-04-01 00:00:00

abstract：:The aim of this study was to investigate the genetic background of familial clustering of diabetes using genome-wide linkage analysis combined with exome sequencing. We recruited a Japanese family with a 3-generation history of diabetes. The family comprised 16 members, 13 having been diagnosed with diabetes. Nine mem...

journal_title：Molecular genetics and metabolism

authors： Tanaka D,Nagashima K,Sasaki M,Funakoshi S,Kondo Y,Yasuda K,Koizumi A,Inagaki N

更新日期：2013-05-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) represent an expanding family of metabolic disorders with a wide range of biochemical, molecular and clinical phenotypes. ALG3-CDG (CDG-Id), due to a defect in endoplasmic reticulum (ER) mannosyltransferase VI, is one of the less common types of CDG-I. We describe two Vietna...

journal_title：Molecular genetics and metabolism

authors： Riess S,Reddihough DS,Howell KB,Dagia C,Jaeken J,Matthijs G,Yaplito-Lee J

更新日期：2013-09-01 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：: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：:Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease caus...

journal_title：Molecular genetics and metabolism

authors： Chang B,Nishizawa T,Furutani M,Fujiki A,Tani M,Kawaguchi M,Ibuki K,Hirono K,Taneichi H,Uese K,Onuma Y,Bowles NE,Ichida F,Inoue H,Matsuoka R,Miyawaki T,Noncompaction study collaborators.

更新日期：2011-02-01 00:00:00

abstract：UNLABELLED:The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild beha...

journal_title：Molecular genetics and metabolism

authors： Yund B,Rudser K,Ahmed A,Kovac V,Nestrasil I,Raiman J,Mamak E,Harmatz P,Steiner R,Lau H,Vekaria P,Wozniak JR,Lim KO,Delaney K,Whitley C,Shapiro EG

更新日期：2015-02-01 00:00:00

abstract：:Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

journal_title：Molecular genetics and metabolism

authors： Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

更新日期：2015-08-01 00:00:00

abstract：:Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activatin...

journal_title：Molecular genetics and metabolism

authors： Chan WY

更新日期：1998-02-01 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：: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：: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：: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：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：BACKGROUND:The mucopolysaccharidoses (MPSs) are a family of lysosomal storage disorders caused by impaired glycosaminoglycan degradation. Characteristic brain imaging abnormalities are seen in MPS patients. This study aims to determine the effects of hematopoietic stem cell transplantation (HSCT) and/or intravenous enz...

journal_title：Molecular genetics and metabolism

authors： Wang RY,Cambray-Forker EJ,Ohanian K,Karlin DS,Covault KK,Schwartz PH,Abdenur JE

更新日期：2009-12-01 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：: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：PURPOSE:Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a...

journal_title：Molecular genetics and metabolism

authors： O'Brien KJ,Lozier J,Cullinane AR,Osorio B,Nghiem K,Speransky V,Zein WM,Mullikin JC,Neff AT,Simon KL,Malicdan MC,Gahl WA,Young LR,Gochuico BR

更新日期：2016-11-01 00:00:00

abstract：:The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to purified normal biotinid...

journal_title：Molecular genetics and metabolism

authors： Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

更新日期：1998-06-01 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：:Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosid...

journal_title：Molecular genetics and metabolism

authors： Goldin E

更新日期：2010-12-01 00:00:00

abstract：:Mutated deoxyguanosine kinase (dGK), which catalyses the first step of the mitochondrial deoxypurine salvage pathway, accounts for a hepatocerebral variant of mitochondrial DNA (mtDNA) depletion syndromes. In order to elucidate the pathogenic mechanism of dGK deficiency, mitochondrial and cytoplasmic deoxyribonucleosi...

journal_title：Molecular genetics and metabolism

authors： Saada A

更新日期：2008-11-01 00:00:00

abstract：:Methionine synthase and methylmalonyl-CoA mutase (mutase) are the only two known vitamin B(12) (B(12)) dependent enzymes in humans. A lower level of B(12) has been shown to be an independent maternal risk factor for neural tube defects (NTDs) prompting an investigation of common genetic variants within B(12) dependent...

journal_title：Molecular genetics and metabolism

authors： Parle-McDermott A,McManus EJ,Mills JL,O'Leary VB,Pangilinan F,Cox C,Weiler A,Molloy AM,Conley M,Watson D,Scott JM,Brody LC,Kirke PN,Birth Defects Research Group.

更新日期：2003-12-01 00:00:00

abstract：:Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. Apparently in most HRH patients, the disorder is caused by loss of function mutations in the gene SLC22A12 coding for human urate transpo...

journal_title：Molecular genetics and metabolism

authors： Sperling O

更新日期：2006-09-01 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