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：BACKGROUND:Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. ...

journal_title：Molecular genetics and metabolism

authors： Manzoni F,Salvatici E,Burlina A,Andrews A,Pasquali M,Longo N

更新日期：2020-12-01 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：:Niemann-Pick type C1 (NPC1) is a rare neurodegenerative disease. In NPC1 mouse cerebella, the antibacterial enzyme, lysozyme (Lyz2), is significantly increased in multiple cell types. Due to its possible role in toxic fibril deposition, we confirmed Lyz2 overexpression in culture in different control and NPC1 cell typ...

journal_title：Molecular genetics and metabolism

authors： Cougnoux A,Yerger JC,Fellmeth M,Serra-Vinardell J,Wassif CA,Cawley NX,Porter FD

更新日期：2020-11-01 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：:Accumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII), but assessment of the efficacy of treatment c...

journal_title：Molecular genetics and metabolism

authors： Kakkis E,Marsden D

更新日期：2020-05-01 00:00:00

abstract：BACKGROUND:Propionic acidemia (PA) is an organic aciduria caused by inherited deficiency of propionyl-CoA carboxylase. Left ventricular dysfunction and QT prolongation may lead to life-threatening complications. Systematic analyses of cardiac phenotypes, in particular effects of specific cardiac therapies, are scarce. ...

journal_title：Molecular genetics and metabolism

authors： Kovacevic A,Garbade SF,Hoffmann GF,Gorenflo M,Kölker S,Staufner C

更新日期：2020-05-01 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：:This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4) years and with no contraindications to intake of albuterol. T...

journal_title：Molecular genetics and metabolism

authors： Koeberl DD,Case LE,Desai A,Smith EC,Walters C,Han SO,Thurberg BL,Young SP,Bali D,Kishnani PS

更新日期：2020-02-01 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：:Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-M...

journal_title：Molecular genetics and metabolism

authors： Han SO,Haynes AC,Li S,Abraham DM,Kishnani PS,Steet R,Koeberl DD

更新日期：2020-02-01 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：:Succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD; OMIM 271980) is a rare disorder featuring accumulation of neuroactive 4-aminobutyric acid (GABA; γ-aminobutyric acid, derived from glutamic acid) and 4-hydroxybutyric acid (γ-hydroxybutyric acid; GHB, a short-chain fatty acid analogue of GABA). Elevated G...

journal_title：Molecular genetics and metabolism

authors： Brown M,Turgeon C,Rinaldo P,Roullet JB,Gibson KM

更新日期：2019-12-01 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

abstract：INTRODUCTION:Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is me...

journal_title：Molecular genetics and metabolism

authors： van Rijssel AE,Knuijt S,Veys K,Levtchenko EN,Janssen MCH

更新日期：2019-04-01 00:00:00

abstract：:Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

journal_title：Molecular genetics and metabolism

authors： Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:The long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU. METHODS:We investigated 35 patients with early-treated classical PKU aged 2...

journal_title：Molecular genetics and metabolism

authors： Feldmann R,Osterloh J,Onon S,Fromm J,Rutsch F,Weglage J

更新日期：2019-03-01 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:Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype. Detailed information regarding antibody subtypes, onset and persistence of antibody development and ...

journal_title：Molecular genetics and metabolism

authors： van der Veen SJ,van Kuilenburg ABP,Hollak CEM,Kaijen PHP,Voorberg J,Langeveld M

更新日期：2019-02-01 00:00:00

abstract：:Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mit...

journal_title：Molecular genetics and metabolism

authors： Dembic M,Andersen HS,Bastin J,Doktor TK,Corydon TJ,Sass JO,Lopes Costa A,Djouadi F,Andresen BS

更新日期：2019-01-01 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：BACKGROUND & AIMS:Long-term liver-related complications of Gaucher disease (GD) include cirrhosis, portal hypertension and hepatocellular carcinoma. Although liver fibrosis is the main determinant of adverse liver-related clinical outcomes, it has rarely been evaluated in previously published cohorts of GD patients. We...

journal_title：Molecular genetics and metabolism

authors： Nascimbeni F,Cassinerio E,Dalla Salda A,Motta I,Bursi S,Donatiello S,Spina V,Cappellini MD,Carubbi F

更新日期：2018-09-01 00:00:00

abstract：:Among the numerous congenital disorders of glycosylation concerning glycoproteins, only a single mutation in ganglioside biosynthesis had been reported until a few years ago: one in the ST3GAL5 gene, encoding GM3 synthase. More recently, additional mutations in the same gene were reported, together with several distin...

journal_title：Molecular genetics and metabolism

authors： Trinchera M,Parini R,Indellicato R,Domenighini R,dall'Olio F

更新日期：2018-08-01 00:00:00

abstract：:Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of al...

journal_title：Molecular genetics and metabolism

authors： Brancaleoni V,Granata F,Missineo P,Fustinoni S,Graziadei G,Di Pierro E

更新日期：2018-08-01 00:00:00

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：:Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known...

journal_title：Molecular genetics and metabolism

authors： Ahrens-Nicklas R,Schlotawa L,Ballabio A,Brunetti-Pierri N,De Castro M,Dierks T,Eichler F,Ficicioglu C,Finglas A,Gaertner J,Kirmse B,Klepper J,Lee M,Olsen A,Parenti G,Vossough A,Vanderver A,Adang LA

更新日期：2018-03-01 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：: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：:Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children. We used h...

journal_title：Molecular genetics and metabolism

authors： Blundell J,Frisson S,Chakrapani A,Gissen P,Hendriksz C,Vijay S,Olson A

更新日期：2018-02-01 00:00:00

abstract：:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic man...

journal_title：Molecular genetics and metabolism

authors： Scarpa M,Lourenço CM,Amartino H

更新日期：2017-12-01 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：:Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders that result from dysfunction of the mitochondrial oxidative phosphorylation due to molecular defects in genes encoding mitochondrial proteins. Despite the advances in molecular and biochemical methodologies leading to better under...

journal_title：Molecular genetics and metabolism

authors： El-Hattab AW,Zarante AM,Almannai M,Scaglia F

更新日期：2017-11-01 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：:Whole exome sequencing (WES) is well established in research and is now being introduced into clinically indicated diagnostics (so-called clinical exomes). We evaluated the diagnostic yield and clinical implications of WES in 72 patients from 60 families with undiagnosed neurodevelopmental disorders (NDD), neurometabo...

journal_title：Molecular genetics and metabolism

authors： Evers C,Staufner C,Granzow M,Paramasivam N,Hinderhofer K,Kaufmann L,Fischer C,Thiel C,Opladen T,Kotzaeridou U,Wiemann S,Schlesner M,Eils R,Kölker S,Bartram CR,Hoffmann GF,Moog U

更新日期：2017-08-01 00:00:00

abstract：:Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral ...

journal_title：Molecular genetics and metabolism

authors： Frisso G,Gelzo M,Procopio E,Sica C,Lenza MP,Dello Russo A,Donati MA,Salvatore F,Corso G

更新日期：2017-08-01 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：BACKGROUND:Rare sequence variants in at least five genes are known to cause monogenic obesity. In this study we aimed to investigate the prevalence of, and characterize, rare coding and splice site variants in LEP, LEPR, MC4R, PCSK1 and POMC in patients with morbid obesity and normal weight controls. METHOD:Targeted n...

journal_title：Molecular genetics and metabolism

authors： Nordang GBN,Busk ØL,Tveten K,Hanevik HI,Fell AKM,Hjelmesæth J,Holla ØL,Hertel JK

更新日期：2017-05-01 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

abstract：:Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storag...

journal_title：Molecular genetics and metabolism

authors： Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

更新日期：2017-03-01 00:00:00

abstract：:Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a...

journal_title：Molecular genetics and metabolism

authors： Futerman AH,Platt FM

更新日期：2017-01-01 00:00:00