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Molecular Genetics and Metabolism

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https://www.readbyqxmd.com/read/29325814/corrigendum-to-development-of-hypomelanotic-macules-is-associated-with-constitutive-activated-mtorc1-in-tuberous-sclerosis-complex-mol-genet-metab-120-4-apr-2017-384-391
#1
L B Møller, B Schönewolf-Greulich, T Rosengren, L J Larsen, J R Ostergaard, M Sommerlund, C Ostenfeldt, B Stausbøl-Grøn, K M Linnet, P A Gregersen, U B Jensen
No abstract text is available yet for this article.
January 8, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29325813/cardiac-function-and-exercise-adaptation-in-8-children-with-lpin1-mutations
#2
Antoine Legendre, Diala Khraiche, Phalla Ou, François-Xavier Mauvais, Marine Madrange, Anne-Sophie Guemann, Jean-Philippe Jais, Damien Bonnet, Yamina Hamel, Pascale de Lonlay
INTRODUCTION: Lipin-1 deficiency is a major cause of rhabdomyolysis that are precipitated by febrile illness. The prognosis is poor, with one-third of patients dying from cardiac arrest during a crisis episode. Apart from acute rhabdomyolysis, most patients are healthy, showing normal clinical and cardiac ultrasound parameters. PATIENTS AND METHODS: We report cardiac and exercise examinations of 8 children carrying two LPIN1 mutations. The examinations were performed outside of a myolysis episode, but one patient presented with fever during one examination...
January 5, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29307761/a-frame-shift-deletion-in-the-pura-gene-associates-with-a-new-clinical-finding-hypoglycorrhachia-is-glut1-a-new-pura-target
#3
Lía Mayorga, Beatriz Gamboni, Alejandra Mampel, María Roqué
PURA is a DNA/RNA-binding protein known to have an important role as a transcriptional and translational regulator. Mutations in the PURA gene have been documented to cause mainly a neurologic phenotype including hypotonia, epilepsy, development delay and respiratory alterations. We report here a patient with a frame-shift deletion in the PURA gene that apart from the classical PURA deficiency phenotype had marked hypoglycorrhachia, overlapping the clinical findings with a GLUT1 deficiency syndrome. SLC2A1 (GLUT1) mutations were discarded, so we hypothesized that GLUT1 could be downregulated in this PURA deficient scenario...
January 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29295764/gene-therapy-for-mucopolysaccharidoses
#4
REVIEW
Kazuki Sawamoto, Hui-Hsuan Chen, Carlos J Alméciga-Díaz, Robert W Mason, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency...
December 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29289479/enzyme-replacement-therapy-with-alglucosidase-alfa-in-pompe-disease-clinical-experience-with-rate-escalation
#5
Ankit K Desai, Crista K Walters, Heidi L Cope, Zoheb B Kazi, Stephanie M DeArmey, Priya S Kishnani
Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6h 36min...
December 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29290526/rapid-screening-for-lipid-storage-disorders-using-biochemical-markers-expert-center-data-and-review-of-the-literature
#6
M Voorink-Moret, S M I Goorden, A B P van Kuilenburg, F A Wijburg, J M M Ghauharali-van der Vlugt, F S Beers-Stet, A Zoetekouw, W Kulik, C E M Hollak, F M Vaz
BACKGROUND: In patients suspected of a lipid storage disorder (sphingolipidoses, lipidoses), confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and genetic studies. New UPLC-MS/MS methods have been developed to measure lysosphingolipids and oxysterols, which, combined with chitotriosidase activity may represent a rapid first tier screening for lipid storage disorders. MATERIAL AND METHODS: A lysosphingolipid panel consisting of lysoglobotriaosylceramide (LysoGb3), lysohexosylceramide (LysoHexCer: both lysoglucosylceramide and lysogalactosylceramide), lysosphingomyelin (LysoSM) and its carboxylated analogue lysosphingomyelin-509 (LysoSM-509) was measured in control subjects and plasma samples of predominantly untreated patients affected with lipid storage disorders (n=74)...
December 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29279279/characterization-of-a-novel-variant-in-siblings-with-asparagine-synthetase-deficiency
#7
Stephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E Olson, Casie A Genetti, Pankaj B Agrawal, Robert McKenna, Michael S Kilberg
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity. Hyperekplexia has been reported. Neuroimaging typically demonstrates gyral simplification, abnormal myelination, and progressive cerebral atrophy...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29289480/chaperone-effect-of-sulfated-disaccharide-from-heparin-on-mutant-iduronate-2-sulfatase-in-mucopolysaccharidosis-type-ii
#8
Hiroo Hoshina, Yohta Shimada, Takashi Higuchi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi
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), which is an X-linked lysosomal storage disorder characterized by a deficiency of iduronate-2-sulfatase (IDS) and the accumulation of glycosaminoglycans (GAGs), has still not been developed. Here we focused on the Δ-unsaturated 2-sulfouronic acid-N-sulfoglucosamine (D2S0), which is a sulfated disaccharide derived from heparin, as a candidate compound for a pharmacological chaperone for MPS II, and analyzed the chaperone effect of the saccharide on IDS by using recombinant protein and cells expressing mutated enzyme...
December 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29273385/glycosaminoglycan-fragments-as-a-measure-of-disease-burden-in-the-mucopolysaccharidosis-type-i-mouse
#9
Jennifer T Saville, Belinda K McDermott, Maria Fuller
Glycosaminoglycan (GAG) catabolism involves endo-hydrolysis of polysaccharides followed by the sequential removal of the non-reducing end residue from the resulting oligosaccharides by exo-enzymes. In the inherited metabolic disorder, mucopolysaccharidosis type I (MPS I), a deficiency in the exo-enzyme, α-l-iduronidase, prevents removal of α-l-iduronic acid residues from the non-reducing end of the GAGs, heparan sulphate (HS) and dermatan sulphate (DS). The excretion of partially degraded HS and DS in urine of MPS I patients has long been recognized, but the question of whether they do indeed reflect GAG load in a particular tissue has not been addressed - an important issue in the context of biomarkers for assessment of disease burden in MPS I...
December 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29269105/disturbed-phospholipid-metabolism-in-serine-biosynthesis-defects-revealed-by-metabolomic-profiling
#10
Kevin E Glinton, Paul J Benke, Matthew A Lines, Michael T Geraghty, Pranesh Chakraborty, Osama Y Al-Dirbashi, Yi Jiang, Adam D Kennedy, Michael S Grotewiel, V Reid Sutton, Sarah H Elsea, Ayman W El-Hattab
Serine biosynthesis defects are autosomal recessive metabolic disorders resulting from the deficiency of any of the three enzymes involved in de novo serine biosynthesis, specifically phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). In this study, we performed metabolomic profiling on 4 children with serine biosynthesis defects; 3 with PGDH deficiency and 1 with PSAT deficiency. The evaluations were performed at baseline and with serine and glycine supplementation...
December 12, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29246431/bypassing-human-coq10-deficiency
#11
Diran Herebian, Luis C López, Felix Distelmaier
Primary disorders of the human coenzyme Q10 (CoQ10) biosynthesis pathway are a known cause of severe pediatric diseases. So far, oral administration of CoQ10 is the only treatment strategy for affected individuals. However, the real benefit of CoQ10 supplementation remains questionable and clinical studies regarding efficiency are lacking. Here we provide an outlook on novel treatment approaches using CoQ precursor compounds. These metabolic bypass strategies might be a promising alternative for oral CoQ10 supplementation regimens...
December 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29307760/worldsymposium%C3%A2-2018-program
#12
(no author information available yet)
No abstract text is available yet for this article.
December 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29248359/impact-of-long-term-elosulfase-alfa-on-activities-of-daily-living-in-patients-with-morquio-a-syndrome-in-an-open-label-multi-center-phase-3-extension-study
#13
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona J Stewart, Derralynn A Hughes, Robert Matousek, Sara M Hawley, Celeste Decker, Paul R Harmatz
BACKGROUND: Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase 3 extension study (MOR-005) of the pivotal 24-week, placebo-controlled study (MOR-004). Changes in efficacy endpoints were evaluated over 120weeks, from MOR-004 baseline to MOR-005 week 96. We report the impact of ERT on activities of daily living (ADL) across three domains (mobility, self-care, and caregiver-assistance), as assessed by the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ) after 72 and 120weeks or approximately 1 and 2years...
December 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29307759/endurance-training-reduces-exercise-induced-acidosis-and-improves-muscle-function-in-a-mouse-model-of-sickle-cell-disease
#14
Benjamin Chatel, Laurent A Messonnier, Quentin Barge, Christophe Vilmen, Philippe Noirez, Monique Bernard, Vincent Pialoux, David Bendahan
Sickle cell disease (SCD) mice (Townes model of SCD) presented exacerbated exercise-induced acidosis and fatigability as compared to control animals. We hypothesize that endurance training could represent a valuable approach to reverse these muscle defects. Endurance-trained HbAA (HbAA-END, n=10), HbAS (HbAS-END, n=11) and HbSS (HbSS-END, n=8) mice were compared to their sedentary counterparts (10 HbAA-SED, 10 HbAS-SED and 9 HbSS-SED mice) during two rest - exercise - recovery protocols during which muscle energetics and function were measured...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#15
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29221916/dna-methylation-signatures-at-endoplasmic-reticulum-stress-genes-are-associated-with-adiposity-and-insulin-resistance
#16
Omar Ramos-Lopez, Jose I Riezu-Boj, Fermin I Milagro, J Alfredo Martinez
A sustained activation of the unfolded protein response and the subsequent endoplasmic reticulum (ER) stress has been involved in the onset and severity of several metabolic diseases. The aim of this study was to analyze the association of DNA methylation signatures at ER stress genes with adiposity traits and related metabolic disorders. An epigenomic analysis within the Methyl Epigenome Network Association (MENA) project was conducted in an adult population (n=474). DNA methylation status in peripheral white blood cells was analyzed by a microarray approach...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29198892/rtb-lectin-mediated-delivery-of-lysosomal-%C3%AE-l-iduronidase-mitigates-disease-manifestations-systemically-including-the-central-nervous-system
#17
Li Ou, Michael J Przybilla, Brenda Koniar, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease resulting from deficiency in the α-L-iduronidase (IDUA) hydrolase and subsequent accumulation of glycosaminoglycan (GAG). Clinically, enzyme replacement therapy (ERT) with IDUA achieves negligible neurological benefits presumably due to blood-brain-barrier (BBB) limitations. To investigate the plant lectin ricin B chain (RTB) as a novel carrier for enzyme delivery to the brain, an IDUA:RTB fusion protein (IDUAL), produced in N. benthamiana leaves, was tested in a murine model of Hurler syndrome (MPS I)...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29198891/observing-the-advanced-disease-course-in-mucopolysaccharidosis-type-iiia-a-case-series
#18
Elsa Shapiro, Alia Ahmed, Chester Whitley, Kathleen Delaney
This follow-up study of a subgroup of the patients seen in a natural history study of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) addressed the adaptive and medical characteristics of their advanced disease manifestations. Of the original 24 patients, specific data was collected on only 58% primarily due to difficulty in locating families and coordinating time for interviews two to four years after the original study. At the last contact with the patient, age range was 8 to 24years of age. Data were collected from telephone interviews from the Vineland Adaptive Behavior Scales II and medical and treatment history...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29198592/can-tangier-disease-cause-male-infertility-a-case-report-and-an-overview-on-genetic-causes-of-male-infertility-and-hormonal-axis-involved
#19
Laura Stocchi, Emiliano Giardina, Luigia Varriale, Annalisa Sechi, Andrea Vagnini, Gianni Parri, Massimo Valentini, Maria Capalbo
Tangier disease is an autosomal recessive disorder caused by mutations in the ABCA1 gene and characterized by the accumulation of cholesteryl ester in various tissues and a near absence of high-density lipoprotein. The subject in this investigation was a 36-year-old Italian man with Tangier disease. He and his wife had come to the In Vitro Fertilization Unit, Pesaro Hospital (Azienda Ospedaliera Ospedali Riuniti Marche Nord) seeking help regarding fertility issues. The man was diagnosed with severe oligoasthenoteratozoospermia...
November 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29196158/prevalence-of-cholesteryl-ester-storage-disease-among-hypercholesterolemic-subjects-and-functional-characterization-of-mutations-in-the-lysosomal-acid-lipase-gene
#20
Terje Vinje, Lene Wierød, Trond P Leren, Thea Bismo Strøm
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. One of the clinical features of this disease is hypercholesterolemia. Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease...
November 23, 2017: Molecular Genetics and Metabolism
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