Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

abstract：:The identification of disease causing mutation in patients with neurodegenerative disorders originating from small, non-consanguineous families is challenging. Three siblings were found to have ventriculomegaly at early gestation; postnatally, there was no acquisition of developmental milestones, and the muscles of th...

journal_title：Molecular genetics and metabolism

authors： Berger I,Ben-Neriah Z,Dor-Wolman T,Shaag A,Saada A,Zenvirt S,Raas-Rothschild A,Nadjari M,Kaestner KH,Elpeleg O

更新日期：2011-12-01 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：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：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：: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：:Novel variants associated with chronic pancreatitis are being increasingly reported. However, most studies have so far only analyzed point mutations and small insertions or deletions. Here we report the characterization of two distinct deletions of the CTRC locus. Variants in four chronic pancreatitis genes, PRSS1, SP...

journal_title：Molecular genetics and metabolism

authors： Masson E,Hammel P,Garceau C,Bénech C,Quéméner-Redon S,Chen JM,Férec C

更新日期：2013-07-01 00:00:00

abstract：:1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

journal_title：Molecular genetics and metabolism

authors： Kajimoto K,Terada H,Baba Y,Shinohara Y

更新日期：2005-05-01 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：: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：:Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. Apparently in most HRH patients, the disorder is caused by loss of function mutations in the gene SLC22A12 coding for human urate transpo...

journal_title：Molecular genetics and metabolism

authors： Sperling O

更新日期：2006-09-01 00:00:00

abstract：:Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is importan...

journal_title：Molecular genetics and metabolism

authors： Slavotinek AM

更新日期：2011-12-01 00:00:00

abstract：:Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adu...

journal_title：Molecular genetics and metabolism

authors： Nguyen KV,Naviaux RK,Patra S,Barshop BA,Nyhan WL

更新日期：2011-02-01 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

abstract：:In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology...

journal_title：Molecular genetics and metabolism

authors： Heintz C,Dobrowolski SF,Andersen HS,Demirkol M,Blau N,Andresen BS

更新日期：2012-08-01 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：: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：: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：:Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

journal_title：Molecular genetics and metabolism

authors： Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

更新日期：2015-08-01 00:00:00

abstract：:Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

journal_title：Molecular genetics and metabolism

authors： Lai J,Vesprini D,Chu W,Jernström H,Narod SA

更新日期：2001-12-01 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：:SLC2A2 encoding glucose transporter -2 (GLUT2) acts as the primary glucose transporter and sensor in rodent pancreatic islets and is widely assumed to play a similar role in humans. In healthy adults SLC2A2 variants are associated with elevated fasting plasma glucose (fpg) concentrations but physiological characterisa...

journal_title：Molecular genetics and metabolism

authors： McCulloch LJ,van de Bunt M,Braun M,Frayn KN,Clark A,Gloyn AL

更新日期：2011-12-01 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：:Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the cysteine-rich protein (CRP) family and has been implicat...

journal_title：Molecular genetics and metabolism

authors： Mohapatra B,Jimenez S,Lin JH,Bowles KR,Coveler KJ,Marx JG,Chrisco MA,Murphy RT,Lurie PR,Schwartz RJ,Elliott PM,Vatta M,McKenna W,Towbin JA,Bowles NE

更新日期：2003-09-01 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：: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：:Familial male-limited precocious puberty (FMPP) is a form of luteinizing hormone-releasing hormone (LHRH)-independent isosexual precocious puberty caused by gain-of-function mutations of the luteinizing hormone/chorionic gonadotropin receptor (hLHR). The most common mutation is 1733 A>G, which causes substitution of A...

journal_title：Molecular genetics and metabolism

authors： Wu SM,Leschek EW,Brain C,Chan WY

更新日期：1999-01-01 00:00:00

abstract：:The tissue specificity of mitochondrial diseases is poorly understood. Recently, tissue-specific quantitative differences of the components of the mitochondrial translation system have been found to correlate with disease presentation in fatal hepatopathy caused by mutations in mitochondrial translation factor EFG1. M...

journal_title：Molecular genetics and metabolism

authors： Bykhovskaya Y,Mengesha E,Fischel-Ghodsian N

更新日期：2007-06-01 00:00:00

abstract：:Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease caus...

journal_title：Molecular genetics and metabolism

authors： Chang B,Nishizawa T,Furutani M,Fujiki A,Tani M,Kawaguchi M,Ibuki K,Hirono K,Taneichi H,Uese K,Onuma Y,Bowles NE,Ichida F,Inoue H,Matsuoka R,Miyawaki T,Noncompaction study collaborators.

更新日期：2011-02-01 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：: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