Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.

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：: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：BACKGROUND:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation...

journal_title：Molecular genetics and metabolism

authors： Tajima G,Hara K,Tsumura M,Kagawa R,Okada S,Sakura N,Hata I,Shigematsu Y,Kobayashi M

更新日期：2016-12-01 00:00:00

abstract：:Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on f...

journal_title：Molecular genetics and metabolism

authors： Hansen FJ,Blau N

更新日期：2005-04-01 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：: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：:Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity...

journal_title：Molecular genetics and metabolism

authors： Meyer E,Kurian MA,Morgan NV,McNeill A,Pasha S,Tee L,Younis R,Norman A,van der Knaap MS,Wassmer E,Trembath RC,Brueton L,Maher ER

更新日期：2011-12-01 00:00:00

abstract：:In humans, deficiency of galactose-1-phosphate uridyltransferase (GALT) can lead a metabolic disorder Classic Galactosemia. Although the biochemical abnormalities associated with this disease have been described in detail, few attempts have been made to characterize the pathogenic mechanisms of this disorder at the mo...

journal_title：Molecular genetics and metabolism

authors： Slepak T,Tang M,Addo F,Lai K

更新日期：2005-11-01 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 human forkhead box O1A (FOXO1A) gene on chromosome 13q14.1 is a key transcription factor in insulin signaling in liver and adipose tissue and plays a central role in the regulation of key pancreatic beta-cell genes including IPF1. We hypothesized that sequence variants of FOXO1A contribute to the observed defects ...

journal_title：Molecular genetics and metabolism

authors： Karim MA,Craig RL,Wang X,Hale TC,Elbein SC

更新日期：2006-06-01 00:00:00

abstract：:Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), fr...

journal_title：Molecular genetics and metabolism

authors： Guglielmi V,Vattemi G,Gualandi F,Voermans NC,Marini M,Scotton C,Pegoraro E,Oosterhof A,Kósa M,Zádor E,Valente EM,De Grandis D,Neri M,Codemo V,Novelli A,van Kuppevelt TH,Dallapiccola B,van Engelen BG,Ferlini A,Tomell

更新日期：2013-09-01 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：: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：: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：: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：:TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. Other less common presentations such as Leigh syndrom...

journal_title：Molecular genetics and metabolism

authors： Murali CN,Soler-Alfonso C,Loomes KM,Shah AA,Monteil D,Padilla CD,Scaglia F,Ganetzky R

更新日期：2021-01-14 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：: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：:Sanfilippo disease (MPS IIIA) is an autosomal recessive lysosomal storage disorder resulting from sulfamidase deficiency, which is characterized by severe neurological impairment. Various tissues of MPS IIIA mice accumulate undegraded glycosaminoglycans and mimic the human neurodegenerative disorder, and are an excell...

journal_title：Molecular genetics and metabolism

authors： Arfi A,Richard M,Gandolphe C,Bonnefont-Rousselot D,Thérond P,Scherman D

更新日期：2011-05-01 00:00:00

abstract：:Sequence capture enrichment (SCE) strategies and massively parallel next generation sequencing (NGS) are expected to increase the rate of gene discovery for genetically heterogeneous hereditary diseases, but at present, there are very few examples of successful application of these technologic advances in translationa...

journal_title：Molecular genetics and metabolism

authors： Raca G,Jackson C,Warman B,Bair T,Schimmenti LA

更新日期：2010-06-01 00:00:00

abstract：BACKGROUND:Oxidative stress is involved in the pathophysiology of renal and cardiovascular complications of diabetes. Superoxide dismutase (SOD) enzymes play a major role in detoxification of reactive oxygen species and protection against oxidative stress. Associations of SOD1 gene variants with diabetic nephropathy we...

journal_title：Molecular genetics and metabolism

authors： Neves AL,Mohammedi K,Emery N,Roussel R,Fumeron F,Marre M,Velho G

更新日期：2012-07-01 00:00:00

abstract：:Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, maki...

journal_title：Molecular genetics and metabolism

authors： Ramírez AM,Ramos MD,Jiménez J,Ghio A,de Botelli MM,Rezzónico CA,Marqués I,Pereyro S,Casals T,de Kremer RD

更新日期：2006-04-01 00:00:00

abstract：:The initial data on the effect of ruthenium red on mature human type-1 VDAC are presented. Highly enriched human type-1 porin in planar lipid bilayers shows lowered voltage-dependence whenever a commercially available ruthenium red preparation is applied. The hexavalent polycationic dye ruthenium red affects different...

journal_title：Molecular genetics and metabolism

authors： Siadat S,Reymann S,Horn A,Thinnes FP

更新日期：1998-11-01 00:00:00

abstract：:Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene. We investigated the genetic basis for ABL in a cohort of ...

journal_title：Molecular genetics and metabolism

authors： Benayoun L,Granot E,Rizel L,Allon-Shalev S,Behar DM,Ben-Yosef T

更新日期：2007-04-01 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：BACKGROUND:Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) activity monitoring are currently limited to conventional blood dot tes...

journal_title：Molecular genetics and metabolism

authors： Turki A,Murthy G,Ueda K,Cheng B,Giezen A,Stockler-Ipsiroglu S,Elango R

更新日期：2015-06-01 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：OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

journal_title：Molecular genetics and metabolism

authors： Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

更新日期：2009-07-01 00:00:00

abstract：:Oxidative stress plays an important role in the pathophysiology of neurodegenerative diseases, including X-linked adrenoleukodystrophy (X-ALD). In the present work, we evaluated lipid (malondialdehyde [MDA] content) and protein (sulfhydryl and carbonyl contents) oxidative damage parameters in plasma from X-ALD patient...

journal_title：Molecular genetics and metabolism

authors： Rockenbach FJ,Deon M,Marchese DP,Manfredini V,Mescka C,Ribas GS,Habekost CT,Castro CG Jr,Jardim LB,Vargas CR

更新日期：2012-06-01 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