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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/28154797/sex-specific-effects-of-serum-sulfate-level-and-slc13a1-nonsense-variants-on-dhea-homeostasis
#1
Christina G Tise, Leslie E Anforth, Albert E Zhou, James A Perry, Patrick F McArdle, Elizabeth A Streeten, Alan R Shuldiner, Laura M Yerges-Armstrong
CONTEXT: Sulfate is critical in the biotransformation of multiple compounds via sulfation. These compounds include neurotransmitters, proteoglycans, xenobiotics, and hormones such as dehydroepiandrosterone (DHEA). Sulfation reactions are thought to be rate-limited by endogenous sulfate concentrations. The gene, SLC13A1, encodes the sodium-sulfate cotransporter NaS1, responsible for sulfate (re)absorption in the intestines and kidneys. We previously reported two rare, non-linked, nonsense variants in SLC13A1 (R12X and W48X) associated with hyposulfatemia (P = 9 × 10(- 20))...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28138430/nd2-mutation-with-minimal-coenzyme-q-responsive-manifestations
#2
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28127531/prevalence-of-adenylosuccinate-lyase-deficiency-based-on-aggregated-exome-data
#3
Carlos R Ferreira
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28119823/pilot-study-of-the-safety-and-effect-of-adalimumab-on-pain-physical-function-and-musculoskeletal-disease-in-mucopolysaccharidosis-types-i-and-ii
#4
Lynda E Polgreen, Alicia Kunin-Batson, Kyle Rudser, Richard K Vehe, Jeanine J Utz, Chester B Whitley, Patricia Dickson
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness, physical dysfunction, and short stature. Tumor necrosis factor - alpha (TNF-α) is elevated in individuals with MPS I and II and associated with pain and physical dysfunction. Therefore, we evaluated the safety and effects of the TNF-α inhibitor adalimumab in patients with MPS I and II in a 32-week, randomized, double blind, placebo-controlled, crossover study of adalimumab at a dose of 20 mg (weight 15-<30 kg) or 40 mg (weight ≥ 30 kg) administered subcutaneously every other week or saline placebo for 16 weeks...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28119822/gene-therapy-for-a-mouse-model-of-glucose-transporter-1-deficiency-syndrome
#5
Sachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, Naomi Takino, Mika Ito, Shiho Aoki, Eriko F Jimbo, Kuniko Shimazaki, Tatsushi Onaka, Sumio Ohtsuki, Tetsuya Terasaki, Takanori Yamagata
OBJECTIVE: We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene was expressed under the synapsin I promoter (AAV-hSLC2A1) and examined if AAV-hSLC2A1 administration can lead to functional improvement in GLUT1-deficient mice. METHODS: AAV-hSLC2A1 was injected into heterozygous knock-out murine Glut1 (GLUT1(+/-)) mice intraperitoneally (systemic; 1.85 × 10(11) vg/mouse) or intra-cerebroventricularly (local; 1.85 × 10(10) vg/mouse)...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28119821/immune-tolerance-induction-for-laronidase-treatment-in-mucopolysaccharidosis-i
#6
Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N Semyachkina, Victoria Y Voinova, Susan Richards, Gerald F Cox, Yong Xue
: Enzyme replacement therapy (ERT) can produce anti-drug antibody (ADA) responses that reduce efficacy or lead to hypersensitivity reactions. Six patients with severe mucopolysaccharidosis type I (MPS I/Hurler syndrome) who did not receive hematopoietic stem cell transplantation underwent an immunosuppression regimen prior to initiating ERT with laronidase. The primary endpoint for immune tolerance induction was the number of patients with an ADA titer ≤ 3200 after 24 weeks of laronidase at the labeled dose...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28116245/7-ketocholesterol-induces-apoptosis-of-mc3t3-e1-cells-associated-with-reactive-oxygen-species-generation-endoplasmic-reticulum-stress-and-caspase-3-7-dependent-pathway
#7
Yuta Sato, Noriko Ishihara, Daiji Nagayama, Atsuhito Saiki, Ichiro Tatsuno
Type 2 diabetes mellitus (T2DM) is associated with an increased risk of bone fractures without reduction of bone mineral density. The cholesterol oxide 7-ketocholesterol (7KCHO) has been implicated in numerous diseases such as atherosclerosis, Alzheimer's disease, Parkinson's disease, cancer, age-related macular degeneration and T2DM. In the present study, 7KCHO decreased the viability of MC3T3-E1 cells, increased reactive oxygen species (ROS) production and apoptotic rate, and upregulated the caspase-3/7 pathway...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28116244/a-new-variant-in-phka2-is-associated-with-glycogen-storage-disease-type-ixa
#8
Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela Del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) in PHKA2 exon 18. In silico analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28116243/late-onset-mitochondrial-encephalomyopathy-with-lactic-acid-and-stroke-like-episodes-melas-defining-symptomology
#9
J Gass, H K Atwal, P S Atwal
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070497/clozapine-for-mitochondrial-psychosis
#10
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070496/utility-of-the-succinate-fumarate-ratio-for-assessing-sdh-dysfunction-in-different-tumor-types
#11
Edward Kim, Michael Jp Wright, Loretta Sioson, Talia Novos, Anthony J Gill, Diana E Benn, Christopher White, Trisha Dwight, Roderick J Clifton-Bligh
OBJECTIVE: Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs), gastrointestinal stromal tumors (GISTs) and renal cell carcinomas (RCCs). These tumors have not been characterized in a way that reflects severity of SDH dysfunction. Mass spectrometric analysis now allows measurement of metabolites extracted from formalin fixed paraffin embedded (FFPE) specimens. We assess whether SDH deficiency in various tumor types characterized by loss of SDHB protein expression correlates with SDH dysfunction as assessed by the ratio of succinate:fumarate in FFPE specimens...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070495/an-atypical-presentation-of-acad9-deficiency-diagnosis-by-whole-exome-sequencing-broadens-the-phenotypic-spectrum-and-alters-treatment-approach
#12
H K Aintablian, V Narayanan, N Belnap, K Ramsey, T A Grebe
Acyl-CoA dehydrogenase 9 (ACAD9), linked to chromosome 3q21.3, is one of a family of multimeric mitochondrial flavoenzymes that catalyze the degradation of fatty acyl-CoA from the carnitine shuttle via β-oxidation (He et al. 2007). ACAD9, specifically, is implicated in the processing of palmitoyl-CoA and long-chain unsaturated substrates, but unlike other acyl-CoA dehydrogenases (ACADs), it has a significant role in mitochondrial complex I assembly (Nouws et al. 2010 & 2014). Mutations in this enzyme typically cause mitochondrial complex I deficiency, as well as a mild defect in long chain fatty acid metabolism (Haack et al...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28070494/pure-myopathy-with-enlarged-mitochondria-associated-to-a-new-mutation-in-mtnd2-gene
#13
Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti
To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually presenting a severe phenotype characterized by early onset encephalomyopathy and early death. In this report, we describe a new mutation in the MTND2 gene in a 21-year-old man with a mild myopathic phenotype characterized by exercise intolerance and increased plasma lactate at rest. Electromyography and brain NMR were normal, and no cardiac involvement was present. Muscle biopsy showed a massive presence of ragged red - COX-positive fibres, with enlarged mitochondria containing osmiophilic inclusions...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28053876/rna-sequencing-of-archived-neonatal-dried-blood-spots
#14
Jonas Bybjerg-Grauholm, Christian Munch Hagen, Sok Kean Khoo, Maria Louise Johannesen, Christine Søholm Hansen, Marie Bækvad-Hansen, Michael Christiansen, David Michael Hougaard, Mads V Hollegaard
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at - 20 °C in the Danish Neonatal Screening Biobank and each sample is linked to elaborate social and medical registries. This provides a unique biospecimen repository to enable large population research at a perinatal level. Here, we demonstrate the feasibility to obtain gene expression data from DBS using next-generation RNA sequencing (RNA-seq)...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28053875/phenotypic-heterogeneity-of-a-compound-heterozygous-sucla2-mutation
#15
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28053874/long-term-outcome-of-isobutyryl-coa-dehydrogenase-deficiency-diagnosed-following-an-episode-of-ketotic-hypoglycaemia
#16
S Santra, A Macdonald, M A Preece, R K Olsen, B S Andresen
Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old girl diagnosed with IBDD after developing hypoglycaemic encephalopathy (blood glucose 1.9 mmol/l) during an episode of rotavirus-induced gastroenteritis...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28003964/low-dose-clozapine-controls-adult-onset-psychosis-associated-with-the-neurogenic-ataxia-retinitis-pigmentosa-narp-mutation
#17
Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27995079/onset-of-melas-due-to-the-m-3243a%C3%A2-%C3%A2-g-mutation-is-early-if-the-large-phenotypic-variability-is-considered
#18
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27995078/phenotypic-heterogeneity-of-melas
#19
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27995077/comparing-expression-and-activity-of-pcsk9-in-spret-eij-and-c57bl-6j-mouse-strains-shows-lack-of-correlation-with-plasma-cholesterol
#20
Francine Sirois, Michel Chrétien, Majambu Mbikay
OBJECTIVE: Low-density lipoprotein receptor (LDLR) and proprotein convertase subtilisin/kexin type 9 (PCSK9) are opposing regulators of plasma LDL-cholesterol levels. The PCSK9 gene exhibits many single or compound polymorphisms within or among mammalian species. This is case between the SPRET/EiJ (SPRET) and C57BL/6J (B6) mouse strains. We examined whether these polymorphisms could be associated with differential expression and activity of their respective PCSK9 molecules. METHODS: Liver expression of LDLR and PCSK9 transcripts were assessed by RT-PCR, and that of their corresponding proteins by immunoblotting...
March 2017: Molecular Genetics and Metabolism Reports
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