Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1.

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 same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only. There is little international consensus about dietary prac...

journal_title：Molecular genetics and metabolism

authors： MacDonald A,Rocha JC,van Rijn M,Feillet F

更新日期：2011-01-01 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：:Congenital adrenal hyperplasia (CAH) is a common inborn error of steroidogenesis. The clinical spectrum of CAH ranges from the severe classical form, which can be fatal in the newborn, to simple virilizing forms or a milder non-classical form which is often not diagnosed until puberty. Recessive mutations in the autos...

journal_title：Molecular genetics and metabolism

authors： Zeng X,Witchel SF,Dobrowolski SF,Moulder PV,Jarvik JW,Telmer CA

更新日期：2004-05-01 00:00:00

abstract：:Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...

journal_title：Molecular genetics and metabolism

authors： Masson E,Le Maréchal C,Levy P,Chuzhanova N,Ruszniewski P,Cooper DN,Chen JM,Férec C

更新日期：2007-09-01 00:00:00

abstract：:Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate ...

journal_title：Molecular genetics and metabolism

authors： Burlina AB,Ogier H,Korall H,Trefz FK

更新日期：2001-04-01 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：: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：:Pompe disease is an inherited metabolic, neuromuscular disorder. With the introduction of enzyme replacement therapy skeletal muscle and respiratory function can be stabilized or improved. Additional physiotherapy to advance physical functioning of patients might be beneficial, but evidence and guidelines are lacking....

journal_title：Molecular genetics and metabolism

authors： Favejee MM,Huisstede BM,Bussmann JB,Kruijshaar ME,van der Ploeg AT

更新日期：2012-09-01 00:00:00

abstract：:The oral contraceptive pill is associated with a modest increase in the risk of early-onset breast cancer in the general population, but it is possible that the risk is higher in certain subgroups of women. The relative risk of breast cancer associated with oral contraceptive use has been reported to be higher for Afr...

journal_title：Molecular genetics and metabolism

authors： Jernström H,Chu W,Vesprini D,Tao Y,Majeed N,Deal C,Pollak M,Narod SA

更新日期：2001-02-01 00:00:00

abstract：:Classic phenylketonuria (PKU) is characterized by severe mental retardation in untreated individuals and mild neurocognitive abnormalities in some early treated adults. The exact biochemical mechanisms underlying this neurotoxicity remain undetermined. Several theories implicate abnormal cerebral energy utilization an...

journal_title：Molecular genetics and metabolism

authors： Wasserstein MP,Snyderman SE,Sansaricq C,Buchsbaum MS

更新日期：2006-03-01 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

abstract：:3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was c...

journal_title：Molecular genetics and metabolism

authors： Arnold GL,Koeberl DD,Matern D,Barshop B,Braverman N,Burton B,Cederbaum S,Fiegenbaum A,Garganta C,Gibson J,Goodman SI,Harding C,Kahler S,Kronn D,Longo N

更新日期：2008-04-01 00:00:00

abstract：:Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone (T3) caused by mutations in the thyroid hormone receptor beta (TRbeta). The index patient of the family reported here, a 17-year-old woman, came to medical attention because of a diffuse goiter, short statu...

journal_title：Molecular genetics and metabolism

authors： Furlanetto TW,Kopp P,Peccin S,Gu WX,Jameson JL

更新日期：2000-11-01 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：:The mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by defects in the enzymes involved in the degradation of glycosaminoglycans. Hurler syndrome (MPS I) and Sanfilippo syndrome (MPS III) are among the more common diseases in the group, each occurring with an incidence of approximately 1 in 100,000. ...

journal_title：Molecular genetics and metabolism

authors： Sun A,Hopwood JJ,Thompson J,Cederbaum SD

更新日期：2011-06-01 00:00:00

abstract：:Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

journal_title：Molecular genetics and metabolism

authors： Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

更新日期：2004-11-01 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：BACKGROUND:The etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. METHODS AND RESULTS:Here we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcino...

journal_title：Molecular genetics and metabolism

authors： Stender S,Chakrabarti RS,Xing C,Gotway G,Cohen JC,Hobbs HH

更新日期：2015-12-01 00:00:00

abstract：:The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine whic...

journal_title：Molecular genetics and metabolism

authors： Lahjouji K,Mitchell GA,Qureshi IA

更新日期：2001-08-01 00:00:00

abstract：:Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical ph...

journal_title：Molecular genetics and metabolism

authors： Pisani A,Visciano B,Roux GD,Sabbatini M,Porto C,Parenti G,Imbriaco M

更新日期：2012-11-01 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：:Although many genetic variants have been associated with differential drug responses, a very limited number of pharmacogenetic tests have entered common clinical practice. Pharmacogenetic tests that are successful address unmet medical needs, are clinically relevant, and have sufficient sensitivity, and specificity. I...

journal_title：Molecular genetics and metabolism

authors： Katz DA

更新日期：2002-09-01 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：: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：: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：: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：:MPS IIIA is a lysosomal storage disorder caused by mutations in the sulphamidase gene, resulting in the accumulation of heparan sulphate glycosaminoglycans (HS GAGs). Symptoms predominantly manifest in the CNS and there is no current therapy that effectively addresses neuropathology in MPS IIIA patients. Recent studie...

journal_title：Molecular genetics and metabolism

authors： Roberts AL,Fletcher JM,Moore L,Byers S

更新日期：2010-10-01 00:00:00

abstract：:Erythropoietin (Epo), a glycoprotein hormone produced principally in the fetal kidney and in the adult liver in response to hypoxia, is the prime regulator of growth and differentiation in erythroid progenitor cells. The regulation of Epo gene expression is not fully understood, but two mechanisms have been proposed. ...

journal_title：Molecular genetics and metabolism

authors： Daghman NA,McHale CM,Savage GM,Price S,Winter PC,Maxwell AP,Lappin TR

更新日期：1999-06-01 00:00:00

abstract：BACKGROUND:Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported t...

journal_title：Molecular genetics and metabolism

authors： Duley JA,Henman MG,Carpenter KH,Bamshad MJ,Marshall GA,Ooi CY,Wilcken B,Pinner JR

更新日期：2016-09-01 00:00:00