Telomere length elongation after weight loss intervention in obese adults.

abstract：:Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases (LSD), characterized by the deficiency of a lysosomal enzyme responsible for the degradation of glycosaminoglycans (GAG). This deficiency leads to the lysosomal accumulation of partially degraded GAG. Nevertheless, deficiency of a single lysosomal en...

journal_title：Molecular genetics and metabolism

authors： Salazar DA,Rodríguez-López A,Herreño A,Barbosa H,Herrera J,Ardila A,Barreto GE,González J,Alméciga-Díaz CJ

更新日期：2016-02-01 00:00:00

abstract：:In utero cocaine exposure can affect CNS development. Previous studies showed that cocaine inhibits neuronal differentiation in a dose-dependent fashion, in nerve growth factor (NGF)-stimulated PC12 cells, without affecting cell viability. NGF activates intracellular signaling proteins, specific immediate-early genes ...

journal_title：Molecular genetics and metabolism

authors： Zachor DA,Moore JF,Jin J,Theibert AB,Percy AK

更新日期：1998-05-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that encodes a peroxisomal membrane located ABC half-transporter named ALDP. Mutations in ALDP result in elevated levels of very long-chain fatty acids (VLCFA) and reduced VLCFA beta-oxidation in peroxisomes. The peroxisomal membrane harbor...

journal_title：Molecular genetics and metabolism

authors： Kemp S,Wanders RJ

更新日期：2007-03-01 00:00:00

abstract：:Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

journal_title：Molecular genetics and metabolism

authors： Komen JC,Duran M,Wanders RJ

更新日期：2005-07-01 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：:To examine whether Mmachc and Mmadhc, two genes involved in vitamin B(12) (cobalamin) metabolism, show tissue-specific expression during mouse embryogenesis, we determined their sites of expression at 11.5days post conception by in situ hybridization. There was ubiquitous expression of Mmadhc, but tissue and cell type...

journal_title：Molecular genetics and metabolism

authors： Pupavac M,Garcia MA,Rosenblatt DS,Jerome-Majewska LA

更新日期：2011-08-01 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, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed...

journal_title：Molecular genetics and metabolism

authors： Peoc'h K,Nicolas G,Schmitt C,Mirmiran A,Daher R,Lefebvre T,Gouya L,Karim Z,Puy H

更新日期：2019-11-01 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：:Infantile hepatopathies are life-threatening liver disorders that manifest in the first few months of life. We report on a consanguineous Irish Traveller family that includes six individuals presenting with acute liver failure in the first few months of life. Additional symptoms include anaemia, renal tubulopathy, dev...

journal_title：Molecular genetics and metabolism

authors： Casey JP,McGettigan P,Lynam-Lennon N,McDermott M,Regan R,Conroy J,Bourke B,O'Sullivan J,Crushell E,Lynch S,Ennis S

更新日期：2012-07-01 00:00:00

abstract：:Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

journal_title：Molecular genetics and metabolism

authors： Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

更新日期：2011-12-01 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：:The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) mediates the activating action of TSH to the thyroid gland, resulting in the growth and proliferation of thyrocytes and thyroid hormone production. In Graves' disease, thyroid-stimulating autoantibodies can mimic TSH action and stimulate thyroid cel...

journal_title：Molecular genetics and metabolism

authors： Chistiakov DA

更新日期：2003-12-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of pro...

journal_title：Molecular genetics and metabolism

authors： Würde AE,Reunert J,Rust S,Hertzberg C,Haverkämper S,Nürnberg G,Nürnberg P,Lehle L,Rossi R,Marquardt T

更新日期：2012-04-01 00:00:00

abstract：:Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of al...

journal_title：Molecular genetics and metabolism

authors： Brancaleoni V,Granata F,Missineo P,Fustinoni S,Graziadei G,Di Pierro E

更新日期：2018-08-01 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：:Orthotopic liver transplant (OLT) significantly improves patient outcomes in maple syrup urine disease (MSUD; OMIM: 248600), yet organ shortages point to the need for alternative therapies. Hepatocyte transplantation has shown both clinical and preclinical efficacy as an intervention for metabolic liver diseases, yet ...

journal_title：Molecular genetics and metabolism

authors： Skvorak KJ,Dorko K,Marongiu F,Tahan V,Hansel MC,Gramignoli R,Arning E,Bottiglieri T,Gibson KM,Strom SC

更新日期：2013-06-01 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：:Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuro...

journal_title：Molecular genetics and metabolism

authors： von Kleist L,Ariunbat K,Braren I,Stauber T,Storch S,Danyukova T

更新日期：2019-02-01 00:00:00

abstract：:A tetraglucose oligomer, Glcalpha1-6Glcalpha1-4Glcalpha1-4Glc, designated Glc4, has been shown to be a putative biomarker for the diagnosis of Pompe disease. The purpose of this study was to assess whether Glc4 could be used to monitor the therapeutic response to recombinant human acid alpha glucosidase (rhGAA) enzyme...

journal_title：Molecular genetics and metabolism

authors： An Y,Young SP,Kishnani PS,Millington DS,Amalfitano A,Corz D,Chen YT

更新日期：2005-08-01 00:00:00

abstract：:Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA 1 gene (Xp22.12) defects. Here, we report the case of a Polynesian girl presenting with delayed neurological development, cortical atrophy, and posterior corpus callo...

journal_title：Molecular genetics and metabolism

authors： Brivet M,Moutard ML,Zater M,Venet L,Chenel C,Mine M,Legrand A

更新日期：2005-12-01 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：:Holocarboxylase synthetase (HCS) catalyses the biotinylation of the four biotin-dependent carboxylases found in humans. A deficiency in HCS results in biotin-responsive multiple carboxylase deficiency. We have evaluated the biotin responsiveness associated with six missense mutations previously identified in affected ...

journal_title：Molecular genetics and metabolism

authors： Dupuis L,Campeau E,Leclerc D,Gravel RA

更新日期：1999-02-01 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：:Small molecules called pharmacological chaperones have been shown to improve the stability, intracellular localization, and function of mutated enzymes in several lysosomal storage diseases, and proposed as promising therapeutic agents for them. However, a chaperone compound for mucopolysaccharidosis type II (MPS II),...

journal_title：Molecular genetics and metabolism

authors： Hoshina H,Shimada Y,Higuchi T,Kobayashi H,Ida H,Ohashi T

更新日期：2018-02-01 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：:The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to elimi...

journal_title：Molecular genetics and metabolism

authors： Kallwass H,Carr C,Gerrein J,Titlow M,Pomponio R,Bali D,Dai J,Kishnani P,Skrinar A,Corzo D,Keutzer J

更新日期：2007-04-01 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：:Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabo...

journal_title：Molecular genetics and metabolism

authors： Evers C,Staufner C,Granzow M,Paramasivam N,Hinderhofer K,Kaufmann L,Fischer C,Thiel C,Opladen T,Kotzaeridou U,Wiemann S,Schlesner M,Eils R,Kölker S,Bartram CR,Hoffmann GF,Moog U

更新日期：2017-08-01 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