mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

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 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：:Screening for mutations in the low density lipoprotein receptor (LDLR) gene has identified more than 1000 mutations as the cause of familial hypercholesterolemia (FH). In addition, numerous intronic mutations with uncertain effects on pre-mRNA splicing have also been identified. In this study, we have selected 18 intr...

journal_title：Molecular genetics and metabolism

authors： Holla ØL,Nakken S,Mattingsdal M,Ranheim T,Berge KE,Defesche JC,Leren TP

更新日期：2009-04-01 00:00:00

abstract：:In mammals, the conversion of alpha-aminoadipate to alpha-ketoadipate by alpha-aminoadipate aminotransferase (AADAT) is an intermediate step in lysine degradation. A gene encoding for alpha-aminoadipate aminotransferase and kynurenine aminotransferase activities had been previously identified in the rat (KAT/AadAT). W...

journal_title：Molecular genetics and metabolism

authors： Goh DL,Patel A,Thomas GH,Salomons GS,Schor DS,Jakobs C,Geraghty MT

更新日期：2002-07-01 00:00:00

abstract：:The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

journal_title：Molecular genetics and metabolism

authors： McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

更新日期：1999-03-01 00:00:00

abstract：:Resistance to apoptosis has been described in neutrophils from patients with PNH and related hematologic disorders (aplastic anemia, myelodysplastic syndrome), but its molecular basis is not understood. Using gene expression analysis, PNH granulocytes had relative overexpression of four anti-apoptosis genes (human A1,...

journal_title：Molecular genetics and metabolism

authors： Heeney MM,Ormsbee SM,Moody MA,Howard TA,DeCastro CM,Ware RE

更新日期：2003-04-01 00:00:00

abstract：:Creatine and creatine phosphate provide storage and transmission of phosphate-bound energy in muscle and brain. Of the three inborn errors of creatine metabolism causing brain creatine depletion, l-arginine:glycine amidinotransferase (AGAT) deficiency has been described in only two families. We describe clinical and b...

journal_title：Molecular genetics and metabolism

authors： Edvardson S,Korman SH,Livne A,Shaag A,Saada A,Nalbandian R,Allouche-Arnon H,Gomori JM,Katz-Brull R

更新日期：2010-10-01 00:00:00

abstract：:We report 10 children (7 male, 3 female), 3 homozygous for c.319C>T mutation and 7 heterozygous for c.319C>T on one allele and c.625G>A variant on the other in the short-chain acyl-CoA dehydrogenase (SCAD) gene (ACADS). All were of Ashkenazi Jewish origin in which group we found a c.319C>T heterozygote frequency of 1:...

journal_title：Molecular genetics and metabolism

authors： Tein I,Elpeleg O,Ben-Zeev B,Korman SH,Lossos A,Lev D,Lerman-Sagie T,Leshinsky-Silver E,Vockley J,Berry GT,Lamhonwah AM,Matern D,Roe CR,Gregersen N

更新日期：2008-02-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. For reliable and accurate mutation detection in the CYP21 gene it is important to separate the CYP21 gene from the highly homologous CYP21P pseudogene. For this, several di...

journal_title：Molecular genetics and metabolism

authors： Lee HH,de Wijs IJ,Sistermans EA

更新日期：2000-08-01 00:00:00

abstract：:2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this di...

journal_title：Molecular genetics and metabolism

authors： Grünert SC,Schmitt RN,Schlatter SM,Gemperle-Britschgi C,Balcı MC,Berg V,Çoker M,Das AM,Demirkol M,Derks TGJ,Gökçay G,Uçar SK,Konstantopoulou V,Christoph Korenke G,Lotz-Havla AS,Schlune A,Staufner C,Tran C,Visser G,S

更新日期：2017-09-01 00:00:00

abstract：:Tetrahydrobiopterin (BH4) responsiveness in patients with mutations in the phenylalanine hydroxylase (PAH) gene is a recently recognized subtype of hyperphenylalaninemia characterized by a positive BH4 loading test. According to recent estimates, this phenotype may be quite common, suggesting that a large group of ind...

journal_title：Molecular genetics and metabolism

authors： Desviat LR,Pérez B,Bèlanger-Quintana A,Castro M,Aguado C,Sánchez A,García MJ,Martínez-Pardo M,Ugarte M

更新日期：2004-09-01 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：:The cause of neurodegeneration in MPS mouse models is the focus of much debate and what the underlying cause of disease pathology in MPS mice is. The timing of development of pathology and when this can be reversed or impacted is the key to developing suitable therapies in MPS. This study is the first of its kind to c...

journal_title：Molecular genetics and metabolism

authors： Derrick-Roberts A,Kaidonis X,Jackson MR,Liaw WC,Ding X,Ong C,Ranieri E,Sharp P,Fletcher J,Byers S

更新日期：2020-01-01 00:00:00

abstract：:Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included ...

journal_title：Molecular genetics and metabolism

authors： Janzen D,Nguyen M

更新日期：2010-01-01 00:00:00

abstract：:The availability of 18 thyrotropin receptor (TSHR) sequences, including two recent entries for primates and seven from fish, have allowed us to investigate diversification of residues or domains during evolution. We used a likelihood ratio test for evolutionary rate shifts [Proc. Natl. Acad. Sci. 98 (2001) 14512] usin...

journal_title：Molecular genetics and metabolism

authors： Knudsen B,Farid NR

更新日期：2004-04-01 00:00:00

abstract：:Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative i...

journal_title：Molecular genetics and metabolism

authors： Prust MJ,Gropman AL,Hauser N

更新日期：2011-11-01 00:00:00

abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

journal_title：Molecular genetics and metabolism

authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

更新日期：1998-09-01 00:00:00

abstract：:Medicine is rapidly applying exome and genome sequencing to the diagnosis and management of human disease. Somatic mosaicism, however, is not readily detectable by these means, and yet it accounts for a significant portion of undiagnosed disease. We present a rapid and sensitive method, the Continuous Distribution Fun...

journal_title：Molecular genetics and metabolism

authors： Markello TC,Carlson-Donohoe H,Sincan M,Adams D,Bodine DM,Farrar JE,Vlachos A,Lipton JM,Auerbach AD,Ostrander EA,Chandrasekharappa SC,Boerkoel CF,Gahl WA

更新日期：2012-04-01 00:00:00

abstract：:The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (P(i))-linked antiporter capable of G6P: P(i) and P(i):P(i) exchanges. We previously characterized G6PT mutations by measuring G6P uptake activities in microsomes co-expressing G6PT and glucose-6-phosphatase-alpha. ...

journal_title：Molecular genetics and metabolism

authors： Chen SY,Pan CJ,Lee S,Peng W,Chou JY

更新日期：2008-12-01 00:00:00

abstract：:Oxidative metabolism of glucose is regulated by pyruvate dehydrogenase (PDH) that can be inhibited by isoforms of PDH kinase (PDK). Recently, increased PDK activity has been implicated in the pathogenesis of insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM) in obese subjects. Using quantitative RT...

journal_title：Molecular genetics and metabolism

authors： Majer M,Popov KM,Harris RA,Bogardus C,Prochazka M

更新日期：1998-10-01 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：:Tetrahydrobiopterin (BH(4)) is widely used as a therapeutic agent in patients with BH(4) deficiencies and mild forms of phenylketonuria (PKU) and there is an increasing need for the measurement of its plasma concentrations in patients with cardiovascular disorders. We measured BH(4) and total biopterin in dithioerythr...

journal_title：Molecular genetics and metabolism

authors： Fiege B,Ballhausen D,Kierat L,Leimbacher W,Goriounov D,Schircks B,Thöny B,Blau N

更新日期：2004-01-01 00:00:00

abstract：:Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developme...

journal_title：Molecular genetics and metabolism

authors： Campeau PM,Pivalizza PJ,Miller G,McBride K,Karpen S,Goss J,Lee BH

更新日期：2010-01-01 00:00:00

abstract：:Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

journal_title：Molecular genetics and metabolism

authors： Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

更新日期：2008-04-01 00:00:00

abstract：:Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. GH treatment improves the profile of many cardiovascular risk markers in individuals with GH deficiency (GHD). The aim of the present was to assess whether GH replacement may decrease plasma total homocysteine, an indep...

journal_title：Molecular genetics and metabolism

authors： Lewandowski KC,Murray RD,Drzewoski J,O'Callaghan CJ,Czupryniak L,Hillhouse EW,Shalet SM,Randeva HS

更新日期：2003-11-01 00:00:00

abstract：:Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicates the management of...

journal_title：Molecular genetics and metabolism

authors： Escolar ML,Kiely BT,Shawgo E,Hong X,Gelb MH,Orsini JJ,Matern D,Poe MD

更新日期：2017-07-01 00:00:00

abstract：:A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There are currently limited treatment regimes for patients with this inherited condition. We aimed to investigate the use of stop codon read-th...

journal_title：Molecular genetics and metabolism

authors： Buck NE,Wood L,Hu R,Peters HL

更新日期：2009-08-01 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：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading to toxic ele...

journal_title：Molecular genetics and metabolism

authors： Kripps K,Nakayuenyongsuk W,Shayota BJ,Berquist W,Gomez-Ospina N,Esquivel CO,Concepcion W,Sampson JB,Cristin DJ,Jackson WE,Gilliland S,Pomfret EA,Kueht ML,Pettit RW,Sherif YA,Emrick LT,Elsea SH,Himes R,Hirano M,Van H

更新日期：2020-05-01 00:00:00

abstract：:Maple syrup urine disease (MSUD) is a rare, autosomal-recessive disorder of branched-chain amino-acid metabolism. In the Philippines, many MSUD cases have been diagnosed clinically. Here, molecular analysis of the dihydrolipoyl transacylase (E2) gene was done in 13 unrelated families from the Philippines. A novel dele...

journal_title：Molecular genetics and metabolism

authors： Silao CL,Padilla CD,Matsuo M

更新日期：2004-02-01 00:00:00