Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice.

abstract：:We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes. The method employs glycogen and 4-methylumbelliferyl-alpha-D-glucopyranoside (4MU-alphaGlc) as substrates for measuring the lysosomal acid alpha-glucosidas...

journal_title：Molecular genetics and metabolism

authors： Okumiya T,Keulemans JL,Kroos MA,Van der Beek NM,Boer MA,Takeuchi H,Van Diggelen OP,Reuser AJ

更新日期：2006-05-01 00:00:00

abstract：BACKGROUND:Little is known about the consequences of the special energy enriched diet used to treat patients with phenylketonuria (PKU) in terms of obesity and metabolic syndrome (MetSyn) development. OBJECTIVE:To investigate the prevalence of overweight and obesity, and its consequences in terms of body composition a...

journal_title：Molecular genetics and metabolism

authors： Rocha JC,van Spronsen FJ,Almeida MF,Soares G,Quelhas D,Ramos E,Guimarães JT,Borges N

更新日期：2012-12-01 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：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：:Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems....

journal_title：Molecular genetics and metabolism

authors： Régal L,Aydin HI,Dieltjens AM,Van Esch H,Francois I,Okur I,Zeybek C,Meulemans S,Van Mol C,Van Bruwaene L,Then SH,Jaeken J,Creemers J

更新日期：2012-11-01 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：:Epstein-Barr virus (EBV) has been associated with several malignant processes in man, most notably Burkitt lymphoma in previously healthy individuals and lesions resembling large cell non-Hodgkin lymphomas in organ transplant recipients. Mice with the severe combined immunodeficiency phenotype (SCID mice) are exquisit...

journal_title：Molecular genetics and metabolism

authors： Salimi B,O'Gorman MR,Variakojis D,Bendet M,Newman M,Poupko E,Katz BZ

更新日期：1998-07-01 00:00:00

abstract：:The causes of Reye-like syndrome are not completely understood. Dihydrolipoamide dehydrogenase (DLD or E3) deficiency is a rare metabolic disorder causing neurological or liver impairment. Specific changes in the levels of urinary and plasma metabolites are the hallmark of the classical form of the disease. Here, we r...

journal_title：Molecular genetics and metabolism

authors： Brassier A,Ottolenghi C,Boutron A,Bertrand AM,Valmary-Degano S,Cervoni JP,Chrétien D,Arnoux JB,Hubert L,Rabier D,Lacaille F,de Keyzer Y,Di Martino V,de Lonlay P

更新日期：2013-05-01 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：: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 report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200mg/day, activities of the biotin-dependent mitochondria...

journal_title：Molecular genetics and metabolism

authors： Santer R,Muhle H,Suormala T,Baumgartner ER,Duran M,Yang X,Aoki Y,Suzuki Y,Stephani U

更新日期：2003-07-01 00:00:00

abstract：:Pulmonary alveolar type II cells have been shown to be a possible target for the secosteroid hormone, 1alpha,25-dihydroxyvitamin D3 [1alpha,25(OH)2D3], during perinatal transition. At present, there is great interest to isolate and identify the metabolites of 1alpha,25(OH)2D3 produced in its target tissues and to dete...

journal_title：Molecular genetics and metabolism

authors： Rehan VK,Torday JS,Peleg S,Gennaro L,Vouros P,Padbury J,Rao DS,Reddy GS

更新日期：2002-05-01 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：: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：OBJECTIVE:To assess whether or not pyrimethamine (PMT) can be used to enhance β-hexosaminidase A activity (HexA) in subjects with Late Onset Tay Sachs (LOTS), we studied the effect of incremental doses of PMT in vivo in 9 LOTS patients carrying the αG269S/c.1278insTACT mutations. METHODS:PMT treatment was initiated at...

journal_title：Molecular genetics and metabolism

authors： Osher E,Fattal-Valevski A,Sagie L,Urshanski N,Amir-Levi Y,Katzburg S,Peleg L,Lerman-Sagie T,Zimran A,Elstein D,Navon R,Stern N,Valevski A

更新日期：2011-03-01 00:00:00

abstract：:The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on d...

journal_title：Molecular genetics and metabolism

authors： Moat S,Carling R,Nix A,Henderson M,Briddon A,Prunty H,Talbot R,Powell A,Wright K,Fuchs S,de Koning T

更新日期：2010-10-01 00:00:00

abstract：:We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mit...

journal_title：Molecular genetics and metabolism

authors： Ugalde C,Hinttala R,Timal S,Smeets R,Rodenburg RJ,Uusimaa J,van Heuvel LP,Nijtmans LG,Majamaa K,Smeitink JA

更新日期：2007-01-01 00:00:00

abstract：:The pyruvate dehydrogenase complex (PDC) oxidizes pyruvate to acetyl CoA and is critically important in maintaining normal cellular energy homeostasis. Loss-of-function mutations in PDC give rise to congenital lactic acidosis and to progressive cellular energy failure. However, the subsequent biochemical consequences ...

journal_title：Molecular genetics and metabolism

authors： Glushakova LG,Judge S,Cruz A,Pourang D,Mathews CE,Stacpoole PW

更新日期：2011-11-01 00:00:00

abstract：:Gaucher disease (GD) is an autosomal-recessive lysosomal storage disease caused by a deficiency of the enzyme, glucocerebrocidase, resulting in accumulation of lipid-laden storage cells in multiple organs such as bone marrow, liver, spleen, and lungs. Type 1 Gaucher disease is the most common form of this condition in...

journal_title：Molecular genetics and metabolism

authors： Serai SD,Naidu AP,Andrew Burrow T,Prada CE,Xanthakos S,Towbin AJ

更新日期：2018-03-01 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：: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：:The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fund...

journal_title：Molecular genetics and metabolism

authors： Nyhan WL

更新日期：2005-09-01 00:00:00

abstract：INTRODUCTION:Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibili...

journal_title：Molecular genetics and metabolism

authors： Thimmapuram R,Bandettini WP,Shanbhag SM,Yu JH,O'Brien KJ,Gahl WA,Introne WJ,Chen MY

更新日期：2020-08-01 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：: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：:For a population-based newborn screening program, challenges exist in using technological advances to improve the quality and efficiency of the existing screening program and to develop new diagnostic capabilities. A newly developed genotyping method for screening of common mutations within the beta-globin gene is des...

journal_title：Molecular genetics and metabolism

authors： Lin Z,Suzow JG,Fontaine JM,Naylor EW

更新日期：2004-03-01 00:00:00

abstract：:The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize anim...

journal_title：Molecular genetics and metabolism

authors： Lawrence R,Brown JR,Lorey F,Dickson PI,Crawford BE,Esko JD

更新日期：2014-02-01 00:00:00

abstract：:Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. ...

journal_title：Molecular genetics and metabolism

authors： Leydiker KB,Neidich JA,Lorey F,Barr EM,Puckett RL,Lobo RM,Abdenur JE

更新日期：2011-05-01 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：: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