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Molecular Genetics and Metabolism

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https://www.readbyqxmd.com/read/28532689/lipid-composition-of-microdomains-is-altered-in-neuronopathic-gaucher-disease-sheep-brain-and-spleen
#1
Leanne K Hein, Tina Rozaklis, Melissa K Adams, John J Hopwood, Litsa Karageorgos
Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine. Membrane raft microdomains are discrete, highly organized microdomains with a unique lipid composition that provide the necessary environment for specific protein-lipid and protein-protein interactions to take place. In this study we purified detergent resistant membranes (DRM; membrane rafts) from the occipital cortex and spleen from sheep affected with acute neuronopathic Gaucher disease and wild-type controls...
May 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28526293/new-biomarkers-defining-a-novel-early-stage-of-fabry-nephropathy-a-diagnostic-test-study
#2
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Robert Baker, Carlos Cardoso, José Luís Ducla Soares, Derralynn Hughes
BACKGROUND: Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2...
May 13, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28506702/cognitive-and-adaptive-measurement-endpoints-for-clinical-trials-in-mucopolysaccharidoses-types-i-ii-and-iii-a-review-of-the-literature
#3
REVIEW
Darren Janzen, Kathleen A Delaney, Elsa G Shapiro
Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases...
May 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28501294/cognitive-endpoints-for-therapy-development-for-neuronopathic-mucopolysaccharidoses-results-of-a-consensus-procedure
#4
REVIEW
Johanna H van der Lee, Jonathan Morton, Heather R Adams, Lorne Clarke, Berendine Johanne Ebbink, Maria L Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, Simon Jones, Shauna Kearney, Joseph Muenzer, Stewart Rust, Margaret Semrud-Clikeman, Frits A Wijburg, Zi-Fan Yu, Darren Janzen, Elsa Shapiro
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult. To address these challenges, an International MPS Consensus Conference for Cognitive Endpoints was convened to discuss approaches for evaluating cognitive and adaptive function in patients with mucopolysaccharidoses...
May 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28529009/assembly-defects-of-multiple-respiratory-chain-complexes-in-a-child-with-cardiac-hypertrophy-associated-with-a-novel-acad9-mutation
#5
Konstantina Fragaki, Annabelle Chaussenot, Audrey Boutron, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger
Patients carrying Acyl-CoA dehydrogenase 9 (ACAD9) mutations reported to date mainly present with severe hypertrophic cardiomyopathy and isolated complex I (CI) dysfunction. Here we report a novel ACAD9 mutation in a young girl presenting with severe hypertrophic cardiomyopathy, isolated CI deficiency and interestingly multiple respiratory chain complexes assembly defects. We show that ACAD9 analysis has to be performed in first intention in patients presenting with cardiac hypertrophy even in the presence of multiple assembly defects...
May 4, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28495078/favourable-effect-of-early-versus-late-start-of-enzyme-replacement-therapy-on-plasma-globotriaosylsphingosine-levels-in-men-with-classical-fabry-disease
#6
Maarten Arends, Frits A Wijburg, Christoph Wanner, Frédéric M Vaz, André B P van Kuilenburg, Derralynn A Hughes, Marieke Biegstraaten, Atul Mehta, Carla E M Hollak, Mirjam Langeveld
BACKGROUND: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy. Early treatment of FD may improve clinical outcome, but data to support this hypothesis are scarce. In this study we compared lysoGb3 decrease after ERT initiation in men with classical FD who started ERT before the age of 25 (early-treatment) with those who started later in life (late-treatment)...
May 4, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28495044/cognitive-and-academic-outcomes-in-long-term-survivors-of-infantile-onset-pompe-disease-a-longitudinal-follow-up
#7
Gail A Spiridigliozzi, Lori A Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, Priya S Kishnani
This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early age. All participants (7 males, 4 females) were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure of visual-motor integration ability (Beery-Buktenica)...
May 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28506393/partial-rescue-of-neuropathology-in-the-murine-model-of-pku-following-administration-of-recombinant-phenylalanine-ammonia-lyase-pegvaliase
#8
Marc Goldfinger, William L Zeile, Carley R Corado, Charles A O'Neill, Laurie S Tsuruda, Philip J Laipis, Jonathan D Cooper
Pegylated recombinant phenylalanine ammonia lyase (pegvaliase) is an enzyme substitution therapy being evaluated for the treatment of phenylketonuria (PKU). PKU is characterized by elevated plasma phenylalanine, which is thought to lead to a deficiency in monoamine neurotransmitters and ultimately, neurocognitive dysfunction. A natural history evaluation in a mouse model of PKU demonstrated a profound decrease in tyrosine hydroxylase (TH) immunoreactivity in several brain regions, beginning at 4weeks of age...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28476546/infantile-gangliosidoses-mapping-a-timeline-of-clinical-changes
#9
Jeanine R Jarnes Utz, Sarah Kim, Kelly King, Richard Ziegler, Lynn Schema, Evelyn S Redtree, Chester B Whitley
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available on infantile GM1 disease (iGM1). There are no approved treatments for infantile gangliosidoses. Substrate reduction therapy using miglustat has been tried, but is limited by gastrointestinal side effects...
April 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28465125/protein-intake-and-physical-activity-are-associated-with-body-composition-in-individuals-with-phenylalanine-hydroxylase-deficiency
#10
Rati Jani, Kathryn Coakley, Teresa Douglas, Rani Singh
OBJECTIVE: Determine whether body composition as it relates to dietary protein in patients with phenylalanine hydroxylase (PAH) deficiency is associated with genotype, dietary factors, and lifestyle choices. METHODS: We examined associations between protein intake (intact and medical foods: MF) and body composition in PAH-deficient patients along with, physical activity, and genotype. Protein intakes (total, intact, and MF) were analysed from three-day food records with Nutrition Data System for Research (NDSR) in 59 children and 27 adults (N=86, median age=16...
April 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28462797/d-glyceric-aciduria-does-not-cause-nonketotic-hyperglycinemia-a-historic-co-occurrence
#11
Michael A Swanson, Stephanie M Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell, Melanie Walter, Ernst Christensen, Johan L K Van Hove, Jörn Oliver Sass
Historically, d-glyceric aciduria was thought to cause an uncharacterized blockage to the glycine cleavage enzyme system (GCS) causing nonketotic hyperglycinemia (NKH) as a secondary phenomenon. This inference was reached based on the clinical and biochemical results from the first d-glyceric aciduria patient reported in 1974. Along with elevated glyceric acid excretion, this patient exhibited severe neurological symptoms of myoclonic epilepsy and absent development, and had elevated glycine levels and decreased glycine cleavage system enzyme activity...
April 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28457719/crystal-structure-of-a-mutant-glycosylasparaginase-shedding-light-on-aspartylglycosaminuria-causing-mechanism-as-well-as-on-hydrolysis-of-non-chitobiose-substrate
#12
Suchita Pande, Damodharan Lakshminarasimhan, Hwai-Chen Guo
Glycosylasparaginase (GA) is an amidase that cleaves Asn-linked glycoproteins in lysosomes. Deficiency of this enzyme causes accumulation of glycoasparagines in lysosomes of cells, resulting in a genetic condition called aspartylglycosaminuria (AGU). To better understand the mechanism of a disease-causing mutation with a single residue change from a glycine to an aspartic acid, we generated a model mutant enzyme at the corresponding position (named G172D mutant). Here we report a 1.8Å resolution crystal structure of mature G172D mutant and analyzed the reason behind its low hydrolase activity...
April 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28442181/hospitalizations-for-mitochondrial-disease-across-the-lifespan-in-the-u-s
#13
Shana E McCormack, Rui Xiao, Todd J Kilbaugh, Michael Karlsson, Rebecca D Ganetzky, Zarazuela Zolkipli Cunningham, Amy Goldstein, Marni J Falk, Scott M Damrauer
IMPORTANCE: Mitochondrial disease is being diagnosed with increasing frequency. Although children with mitochondrial disease often have severe, life-limiting illnesses, many survive into adulthood. There is, however, limited information about the impact of mitochondrial disease on healthcare utilization in the U.S. across the lifespan. OBJECTIVES: To describe the characteristics of inpatient hospitalizations related to mitochondrial disease in the U.S., to identify patient-level clinical factors associated with in-hospital mortality, and to estimate the burden of hospitalizations on individual patients...
April 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28456385/changes-in-red-blood-cell-membrane-lipid-composition-a-new-perspective-into-the-pathogenesis-of-pkan
#14
Manar Aoun, Paola Antonia Corsetto, Guillaume Nugue, Gigliola Montorfano, Emilio Ciusani, David Crouzier, Penelope Hogarth, Allison Gregory, Susan Hayflick, Giovanna Zorzi, Angela Maria Rizzo, Valeria Tiranti
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). The PANK2 catalyzes the first step of coenzyme A (CoA) biosynthesis, a pathway producing an essential cofactor that plays a key role in energy and lipid metabolism. The majority of PANK2 mutations reduces or abolishes the activity of the enzyme. In around 10% of cases with PKAN, the presence of deformed red blood cells with thorny protrusions in the circulation has been detected...
April 18, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28412083/elucidation-of-the-complex-metabolic-profile-of-cerebrospinal-fluid-using-an-untargeted-biochemical-profiling-assay
#15
Adam D Kennedy, Kirk L Pappan, Taraka R Donti, Anne M Evans, Jacob E Wulff, Luke A D Miller, V Reid Sutton, Qin Sun, Marcus J Miller, Sarah H Elsea
We sought to determine the molecular composition of human cerebrospinal fluid (CSF) and identify the biochemical pathways represented in CSF to understand the potential for untargeted screening of inborn errors of metabolism (IEMs). Biochemical profiles for each sample were obtained using an integrated metabolomics workflow comprised of four chromatographic techniques followed by mass spectrometry. Secondarily, we wanted to compare the biochemical profile of CSF with those of plasma and urine within the integrated mass spectrometric-based metabolomic workflow...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28410878/efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-a-systematic-review-and-meta-analysis
#16
Jordi Pérez-López, Montserrat Morales-Conejo, Mónica López-Rodríguez, Álvaro Hermida-Ameijeiras, Marc Moltó-Abad
BACKGROUND: The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits reported by patients initiating ERT with laronidase at adult age might help physicians decide whether the use of ERT in these patients is worthwhile from a clinical point of view. OBJECTIVE: To assess every effectiveness variable modified in MPS-I patients who initiated laronidase at adult age. METHODS: A systematic search of the literature, from inception to July 2016, was conducted using MEDLINE, EMBASE, CENTRAL and LILACS to identify randomized trials or observational studies including ≥1 MPS-I patients with ERT initiated in adult age (≥18years) and evaluating ERT efficacy...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28454995/a-multicenter-clinical-exome-study-in-unselected-cohorts-from-a-consanguineous-population-of-saudi-arabia-demonstrated-a-high-diagnostic-yield
#17
Ahmed Alfares, Majid Alfadhel, Tariq Wani, Saud Alsahli, Iram Alluhaydan, Fuad Al Mutairi, Ali Alothaim, Mohammed Albalwi, Lamia Al Subaie, Saeed Alturki, Waleed Al-Twaijri, Muhammad Alrifai, Ahmed Al-Rumayya, Seham Alameer, Eissa Faqeeh, Ali Alasmari, Abdulaziz Alsamman, Soha Tashkandia, Abdulaziz Alghamdi, Amal Alhashem, Brahim Tabarki, Saad AlShahwan, Khalid Hundallah, Sami Wali, Homoud Al-Hebbi, Amir Babiker, Sarar Mohamed, Wafaa Eyaid, Abdul Ali Peer Zada
No abstract text is available yet for this article.
April 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28400091/metabolomic-changes-demonstrate-reduced-bioavailability-of-tyrosine-and-altered-metabolism-of-tryptophan-via-the-kynurenine-pathway-with-ingestion-of-medical-foods-in-phenylketonuria
#18
Denise M Ney, Sangita G Murali, Bridget M Stroup, Nivedita Nair, Emily A Sawin, Fran Rohr, Harvey L Levy
BACKGROUND: Deficiencies of the monoamine neurotransmitters, such as dopamine synthesized from Tyr and serotonin synthesized from Trp, are of concern in PKU. Our objective was to utilize metabolomics analysis to assess monoamine metabolites in subjects with PKU consuming amino acid medical foods (AA-MF) and glycomacropeptide medical foods (GMP-MF). METHODS: Subjects with PKU consumed a low-Phe diet combined with AA-MF or GMP-MF for 3weeks each in a randomized, controlled, crossover study...
April 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28410879/determination-of-reference-genes-that-are-independent-of-feeding-rhythms-for-circadian-studies-of-mouse-metabolic-tissues
#19
Reiko Nakao, Hiroki Okauchi, Chiaki Hashimoto, Naoyuki Wada, Katsutaka Oishi
Real-time reverse transcription-polymerase chain reaction (RT-PCR) analysis is a popular method for the measurement of mRNA expression level and is a critical tool for basic research. The identification of suitable reference genes that are stable and not affected by experimental conditions is a critical step in the accurate normalization of RT-PCR. On the other hand, the levels of numerous transcripts exhibit circadian oscillation in various peripheral tissues and it is thought to be regulated by feeding rhythms in addition to the molecular circadian clock...
April 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28391974/generation-of-induced-pluripotent-stem-cells-as-disease-modelling-of-nlsdm
#20
D Tavian, S Missaglia, M Castagnetta, D Degiorgio, E M Pennisi, R A Coleman, P Dell'Era, C Mora, C Angelini, D A Coviello
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its name, this enzyme is present in a wide variety of cell types and catalyzes the first step in triacylglycerol lipolysis and the release of fatty acids...
April 3, 2017: Molecular Genetics and Metabolism
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