Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

abstract：:Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in t...

journal_title：Molecular genetics and metabolism

authors： Fontaine M,Kim I,Dessein AF,Mention-Mulliez K,Dobbelaere D,Douillard C,Sole G,Schiff M,Jaussaud R,Espil-Taris C,Boutron A,Wuyts W,Acquaviva C,Vianey-Saban C,Roland D,Joncquel-Chevalier Curt M,Vamecq J

更新日期：2018-04-01 00:00:00

abstract：:Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) des...

journal_title：Molecular genetics and metabolism

authors： Banugaria SG,Austin SL,Boney A,Weber TJ,Kishnani PS

更新日期：2010-04-01 00:00:00

abstract：:We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

journal_title：Molecular genetics and metabolism

authors： Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

更新日期：1999-05-01 00:00:00

abstract：:Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

journal_title：Molecular genetics and metabolism

authors： Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

更新日期：2007-02-01 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：BACKGROUND:A common follicle-stimulating hormone (FSH) receptor (or FSHR) polymorphism Ser680Asn (rs6166) was found to be associated with altered ovarian response in women undergoing in-vitro fertilization. To further investigate such an association, a meta-analysis was conducted. METHODS:A PubMed literature search wa...

journal_title：Molecular genetics and metabolism

authors： Yao Y,Ma CH,Tang HL,Hu YF

更新日期：2011-08-01 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

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：:The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 ...

journal_title：Molecular genetics and metabolism

authors： Pearce DA,Sherman F

更新日期：1999-04-01 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：: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：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：: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：: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：: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：: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：:Pyridoxine dependent epilepsy is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). In order to characterize the effects of a series of twelve disease-associated ALDH7A1 misse...

journal_title：Molecular genetics and metabolism

authors： Coulter-Mackie MB,Li A,Lian Q,Struys E,Stockler S,Waters PJ

更新日期：2012-08-01 00:00:00

abstract：:Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were stud...

journal_title：Molecular genetics and metabolism

authors： Gaeta M,Barca E,Ruggeri P,Minutoli F,Rodolico C,Mazziotti S,Milardi D,Musumeci O,Toscano A

更新日期：2013-11-01 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 Wnt pathway has been shown to play an important role in maintenance of stem cells and cell fate decisions in embryonic and adult stem cell populations. Activation of the Wnt pathway in mesenchymal stem cells and 3 T3-L1 cells inhibits adipogenesis and can lead to osteoblastogenesis. To evaluate the role of the Wnt...

journal_title：Molecular genetics and metabolism

authors： Van Camp JK,Beckers S,Zegers D,Verrijken A,Van Gaal LF,Van Hul W

更新日期：2012-03-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CATR) deficiency is a severe defect in fatty acid oxidation which presents early in life most frequently with hypoglycemia, hyperammonemia, and severe cardiac abnormalities. CATR exchanges acylcarnitines of various chain lengths for free carnitine across the mitochondrial membrane....

journal_title：Molecular genetics and metabolism

authors： Roe DS,Roe CR,Brivet M,Sweetman L

更新日期：2000-01-01 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：: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：: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：BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

journal_title：Molecular genetics and metabolism

authors： Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

更新日期：2015-05-01 00:00:00

abstract：:Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual present...

journal_title：Molecular genetics and metabolism

authors： Wongkittichote P,Ah Mew N,Chapman KA

更新日期：2017-12-01 00:00:00

abstract：:Quantification of ammonia in whole blood has applications in the diagnosis and management of many hepatic diseases, including cirrhosis and rare urea cycle disorders, amounting to more than 5 million patients in the United States. Current techniques for ammonia measurement suffer from limited range, poor resolution, f...

journal_title：Molecular genetics and metabolism

authors： Ayyub OB,Behrens AM,Heligman BT,Natoli ME,Ayoub JJ,Cunningham G,Summar M,Kofinas P

更新日期：2015-06-01 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：:Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR, and pterin-4-alpha-carbinolamine dehydratase, PCD) required for recycling of its cofactor, tetrahydrobiopterin (BH(4)), cause other rarer diseas...

journal_title：Molecular genetics and metabolism

authors： Waters PJ,Scriver CR,Parniak MA

更新日期：2001-07-01 00:00:00

abstract：:The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also...

journal_title：Molecular genetics and metabolism

authors： Adams DR,Yuan H,Holyoak T,Arajs KH,Hakimi P,Markello TC,Wolfe LA,Vilboux T,Burton BK,Fajardo KF,Grahame G,Holloman C,Sincan M,Smith AC,Wells GA,Huang Y,Vega H,Snyder JP,Golas GA,Tifft CJ,Boerkoel CF,Hanson RW,

更新日期：2014-11-01 00:00:00