Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

abstract：:Congenital adrenal hyperplasia (CAH) is a common inborn error of steroidogenesis. The clinical spectrum of CAH ranges from the severe classical form, which can be fatal in the newborn, to simple virilizing forms or a milder non-classical form which is often not diagnosed until puberty. Recessive mutations in the autos...

journal_title：Molecular genetics and metabolism

authors： Zeng X,Witchel SF,Dobrowolski SF,Moulder PV,Jarvik JW,Telmer CA

更新日期：2004-05-01 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：: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：:Gaucher disease is a prevalent lysosomal storage disease in which affected individuals inherit mutations in the gene (GBA1) encoding lysosomal acid β-glucosidase (glucocerebrosidase, GCase, EC 3.2.1.45). One of the most prevalent disease-causing mutations in humans is a N370S missense mutation in the GCase protein. As...

journal_title：Molecular genetics and metabolism

authors： Babajani G,Tropak MB,Mahuran DJ,Kermode AR

更新日期：2012-07-01 00:00:00

abstract：:We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencin...

journal_title：Molecular genetics and metabolism

authors： Santra S,Cameron JM,Shyr C,Zhang L,Drögemöller B,Ross CJ,Wasserman WW,Wevers RA,Rodenburg RJ,Gupte G,Preece MA,van Karnebeek CD

更新日期：2016-05-01 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：: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：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：:Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

journal_title：Molecular genetics and metabolism

authors： Watson JN,Seagraves NJ

更新日期：2019-01-01 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：: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：BACKGROUND:Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochon...

journal_title：Molecular genetics and metabolism

authors： Cosson L,Toutain A,Simard G,Kulik W,Matyas G,Guichet A,Blasco H,Maakaroun-Vermesse Z,Vaillant MC,Le Caignec C,Chantepie A,Labarthe F

更新日期：2012-05-01 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：:In lysosomal glycosphingolipid storage disorders, marked elevations in corresponding glycosphingoid bases (lyso-glycosphingolipids) have been reported, such as galactosylsphingosine in Krabbe disease, glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease. Using LC–MS/MS, we comparatively...

journal_title：Molecular genetics and metabolism

authors： Ferraz MJ,Marques AR,Gaspar P,Mirzaian M,van Roomen C,Ottenhoff R,Alfonso P,Irún P,Giraldo P,Wisse P,Sá Miranda C,Overkleeft HS,Aerts JM

更新日期：2016-02-01 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：:We determined the ability of self-complementary adeno-associated virus (scAAV) vectors to deliver and express the pyruvate dehydrogenase E1alpha subunit gene (PDHA1) in primary cultures of skin fibroblasts from 3 patients with defined mutations in PHDA1 and 3 healthy subjects. Cells were transduced with scAAV vectors ...

journal_title：Molecular genetics and metabolism

authors： Han Z,Berendzen K,Zhong L,Surolia I,Chouthai N,Zhao W,Maina N,Srivastava A,Stacpoole PW

更新日期：2008-04-01 00:00:00

abstract：:The disorder trimethylaminuria (TMAu) often manifests itself in a body odor for individuals affected. TMAu is due to decreased metabolism of dietary-derived trimethylamine (TMA). In a healthy individual, 95% or more of TMA is converted by the flavin-containing monooxygenase 3 (FMO3, EC 1.14.13.8) to non-odorous trimet...

journal_title：Molecular genetics and metabolism

authors： Motika MS,Zhang J,Zheng X,Riedler K,Cashman JR

更新日期：2009-06-01 00:00:00

abstract：:Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, i...

journal_title：Molecular genetics and metabolism

authors： Tayebi N,Walker J,Stubblefield B,Orvisky E,LaMarca ME,Wong K,Rosenbaum H,Schiffmann R,Bembi B,Sidransky E

更新日期：2003-06-01 00:00:00

abstract：:N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

journal_title：Molecular genetics and metabolism

authors： Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

更新日期：2010-01-01 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：: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：BACKGROUND:Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported t...

journal_title：Molecular genetics and metabolism

authors： Duley JA,Henman MG,Carpenter KH,Bamshad MJ,Marshall GA,Ooi CY,Wilcken B,Pinner JR

更新日期：2016-09-01 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

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder characterized by the accumulation of saturated and mono-unsaturated very long-chain fatty acids (VLCFA) and reduced peroxisomal VLCFA beta-oxidation activity. In this study, we investigated the role of VLCFA biosynthesis in X-ALD fibrobl...

journal_title：Molecular genetics and metabolism

authors： Kemp S,Valianpour F,Denis S,Ofman R,Sanders RJ,Mooyer P,Barth PG,Wanders RJ

更新日期：2005-02-01 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：: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：: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：: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：:Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a membe...

journal_title：Molecular genetics and metabolism

authors： Saheki T,Kobayashi K,Iijima M,Horiuchi M,Begum L,Jalil MA,Li MX,Lu YB,Ushikai M,Tabata A,Moriyama M,Hsiao KJ,Yang Y

更新日期：2004-04-01 00:00:00

abstract：:Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tande...

journal_title：Molecular genetics and metabolism

authors： Kubaski F,Suzuki Y,Orii K,Giugliani R,Church HJ,Mason RW,Dũng VC,Ngoc CT,Yamaguchi S,Kobayashi H,Girisha KM,Fukao T,Orii T,Tomatsu S

更新日期：2017-03-01 00:00:00